nsv4295
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:99,786
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000946214_G21'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000001080414_I17'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050411300_L13'
- TRACE: TEMPLATE_ID='165377_ABC7_000042398600_H23'
- TRACE: TEMPLATE_ID='165631_ABC7_000042486700_C1'
- TRACE: TEMPLATE_ID='174779_ABC12_000044765800_I14'
- TRACE: TEMPLATE_ID='174779_ABC12_000047839200_H19'
- TRACE: TEMPLATE_ID='174779_ABC12_000049060100_E9'
- TRACE: TEMPLATE_ID='174779_ABC12_000049070900_H21'
- Overlapping Genes
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: 984 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 783 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 984 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 547 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4295 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,742,526 | 34,842,311 |
| nsv4295 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 234,855 | 334,640 |
| nsv4295 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 34,744,148 | 34,843,933 |
| nsv4295 | Remapped | Perfect | GRCh37.p13 | PATCHES | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 234,855 | 334,640 |
| nsv4295 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 34,566,714 | 34,666,499 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv9391 | Remapped | Perfect | NW_003315915.1:g.( 234855_?)_(?_32183 6)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 234,855 | 321,836 |
| nssv7073 | Remapped | Perfect | NW_003315915.1:g.( 251739_?)_(?_33464 0)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 251,739 | 334,640 |
| nssv3249 | Remapped | Perfect | NW_003315915.1:g.( 268223_?)_(?_32184 1)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 268,223 | 321,841 |
| nssv9391 | Remapped | Perfect | NC_000004.12:g.(34 742526_?)_(?_34829 507)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,742,526 | 34,829,507 |
| nssv7073 | Remapped | Perfect | NC_000004.12:g.(34 759410_?)_(?_34842 311)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,759,410 | 34,842,311 |
| nssv3249 | Remapped | Perfect | NC_000004.12:g.(34 775894_?)_(?_34829 512)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,775,894 | 34,829,512 |
| nssv9391 | Remapped | Perfect | NW_003315915.1:g.( 234855_?)_(?_32183 6)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 234,855 | 321,836 |
| nssv7073 | Remapped | Perfect | NW_003315915.1:g.( 251739_?)_(?_33464 0)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 251,739 | 334,640 |
| nssv3249 | Remapped | Perfect | NW_003315915.1:g.( 268223_?)_(?_32184 1)del | GRCh37.p13 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 268,223 | 321,841 |
| nssv9391 | Remapped | Perfect | NC_000004.11:g.(34 744148_?)_(?_34831 129)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,744,148 | 34,831,129 |
| nssv7073 | Remapped | Perfect | NC_000004.11:g.(34 761032_?)_(?_34843 933)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,761,032 | 34,843,933 |
| nssv3249 | Remapped | Perfect | NC_000004.11:g.(34 777516_?)_(?_34831 134)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,777,516 | 34,831,134 |
| nssv9391 | Submitted genomic | NC_000004.9:g.(345 66714_?)_(?_346536 95)del52604 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,566,714 | 34,653,695 | ||
| nssv7073 | Submitted genomic | NC_000004.9:g.(345 83598_?)_(?_346664 99)del49342 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,583,598 | 34,666,499 | ||
| nssv3249 | Submitted genomic | NC_000004.9:g.(346 00082_?)_(?_346537 00)del49941 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 34,600,082 | 34,653,700 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv9391 | 3 | SAMN00001588 | Multiple complete digestion | MCD analysis | Pass |
| nssv7073 | 5 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| nssv7073 | 6 | NA12156 | Oligo aCGH | Probe signal intensity | Pass |
| nssv3249 | 5 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
| nssv3249 | 6 | NA12878 | Oligo aCGH | Probe signal intensity | Pass |
| nssv9391 | 5 | SAMN00001588 | Oligo aCGH | Probe signal intensity | Pass |
| nssv9391 | 6 | SAMN00001588 | Oligo aCGH | Probe signal intensity | Pass |