nsv428198
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:336,416
- Publication(s):Perry et al. 2008
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2539 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 322 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 2539 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1386 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv428198 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,211,790 | 39,548,205 |
| nsv428198 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 117,481 | 298,818 |
| nsv428198 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 39,069,309 | 39,405,724 |
| nsv428198 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 39,188,466 | 39,524,881 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv451481 | copy number gain | HGDP01088 | BAC aCGH | Probe signal intensity | 78 |
| nssv451482 | copy number gain | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
| nssv451483 | copy number gain | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
| nssv451484 | copy number gain | HGDP00460 | BAC aCGH | Probe signal intensity | 67 |
| nssv451485 | copy number gain | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
| nssv451486 | copy number gain | HGDP00463 | BAC aCGH | Probe signal intensity | 90 |
| nssv451488 | copy number gain | HGDP00467 | BAC aCGH | Probe signal intensity | 75 |
| nssv451489 | copy number gain | HGDP00471 | BAC aCGH | Probe signal intensity | 73 |
| nssv451490 | copy number gain | HGDP00472 | BAC aCGH | Probe signal intensity | 65 |
| nssv451491 | copy number gain | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
| nssv451492 | copy number gain | HGDP00986 | BAC aCGH | Probe signal intensity | 82 |
| nssv451493 | copy number gain | HGDP01087 | BAC aCGH | Probe signal intensity | 75 |
| nssv451494 | copy number gain | HGDP01089 | BAC aCGH | Probe signal intensity | 65 |
| nssv451495 | copy number gain | HGDP01093 | BAC aCGH | Probe signal intensity | 95 |
| nssv451496 | copy number gain | NA18498 | BAC aCGH | Probe signal intensity | 97 |
| nssv451497 | copy number gain | NA18916 | BAC aCGH | Probe signal intensity | 90 |
| nssv451499 | copy number gain | NA19096 | BAC aCGH | Probe signal intensity | 100 |
| nssv451500 | copy number gain | NA19108 | BAC aCGH | Probe signal intensity | 84 |
| nssv451501 | copy number gain | NA19113 | BAC aCGH | Probe signal intensity | 122 |
| nssv451502 | copy number gain | NA19147 | BAC aCGH | Probe signal intensity | 75 |
| nssv451503 | copy number gain | NA19189 | BAC aCGH | Probe signal intensity | 94 |
| nssv451504 | copy number gain | HGDP00473 | BAC aCGH | Probe signal intensity | 64 |
| nssv451505 | copy number gain | HGDP00474 | BAC aCGH | Probe signal intensity | 56 |
| nssv451506 | copy number gain | HGDP00476 | BAC aCGH | Probe signal intensity | 69 |
| nssv451507 | copy number gain | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
| nssv451508 | copy number gain | NA19257 | BAC aCGH | Probe signal intensity | 86 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv451481 | Remapped | Pass | NT_187577.1:g.(?_1 17481)_(298818_?)d up | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 117,481 | 298,818 |
| nssv451481 | Remapped | Perfect | NC_000008.11:g.(?_ 39211790)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,211,790 | 39,548,205 |
| nssv451482 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451483 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451484 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451485 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451486 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451488 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451489 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451490 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451491 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451492 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451493 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451494 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451495 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451496 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451497 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451499 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451500 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451501 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451502 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451503 | Remapped | Perfect | NC_000008.11:g.(?_ 39244046)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,244,046 | 39,548,205 |
| nssv451504 | Remapped | Perfect | NC_000008.11:g.(?_ 39388279)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,388,279 | 39,548,205 |
| nssv451505 | Remapped | Perfect | NC_000008.11:g.(?_ 39388279)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,388,279 | 39,548,205 |
| nssv451506 | Remapped | Perfect | NC_000008.11:g.(?_ 39388279)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,388,279 | 39,548,205 |
| nssv451507 | Remapped | Perfect | NC_000008.11:g.(?_ 39388279)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,388,279 | 39,548,205 |
| nssv451508 | Remapped | Perfect | NC_000008.11:g.(?_ 39388279)_(3954820 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,388,279 | 39,548,205 |
| nssv451481 | Remapped | Perfect | NC_000008.10:g.(?_ 39069309)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,069,309 | 39,405,724 |
| nssv451482 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451483 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451484 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451485 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451486 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451488 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451489 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451490 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451491 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451492 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451493 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451494 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451495 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451496 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451497 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451499 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451500 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451501 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451502 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451503 | Remapped | Perfect | NC_000008.10:g.(?_ 39101565)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,101,565 | 39,405,724 |
| nssv451504 | Remapped | Perfect | NC_000008.10:g.(?_ 39245798)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,245,798 | 39,405,724 |
| nssv451505 | Remapped | Perfect | NC_000008.10:g.(?_ 39245798)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,245,798 | 39,405,724 |
| nssv451506 | Remapped | Perfect | NC_000008.10:g.(?_ 39245798)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,245,798 | 39,405,724 |
| nssv451507 | Remapped | Perfect | NC_000008.10:g.(?_ 39245798)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,245,798 | 39,405,724 |
| nssv451508 | Remapped | Perfect | NC_000008.10:g.(?_ 39245798)_(3940572 4_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,245,798 | 39,405,724 |
| nssv451481 | Submitted genomic | NC_000008.9:g.(?_3 9188466)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,188,466 | 39,524,881 | ||
| nssv451482 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451483 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451484 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451485 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451486 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451488 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451489 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451490 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451491 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451492 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451493 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451494 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451495 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451496 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451497 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451499 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451500 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451501 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451502 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451503 | Submitted genomic | NC_000008.9:g.(?_3 9220722)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,220,722 | 39,524,881 | ||
| nssv451504 | Submitted genomic | NC_000008.9:g.(?_3 9364955)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,364,955 | 39,524,881 | ||
| nssv451505 | Submitted genomic | NC_000008.9:g.(?_3 9364955)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,364,955 | 39,524,881 | ||
| nssv451506 | Submitted genomic | NC_000008.9:g.(?_3 9364955)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,364,955 | 39,524,881 | ||
| nssv451507 | Submitted genomic | NC_000008.9:g.(?_3 9364955)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,364,955 | 39,524,881 | ||
| nssv451508 | Submitted genomic | NC_000008.9:g.(?_3 9364955)_(39524881 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,364,955 | 39,524,881 |