nsv6625335
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35,048
- Publication(s):Zarrei et al. 2023
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: 910 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 910 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625335 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nsv6625335 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281742 | duplication | OSC2123 | SNP array | Probe signal intensity | 8 |
| nssv18283326 | duplication | OSC2398 | SNP array | Probe signal intensity | 7 |
| nssv18285577 | duplication | OSC2859 | SNP array | Probe signal intensity | 6 |
| nssv18287701 | duplication | OSC3081 | SNP array | Probe signal intensity | 6 |
| nssv18288515 | duplication | OSC3217 | SNP array | Probe signal intensity | 6 |
| nssv18292365 | duplication | OSC0408 | SNP array | Probe signal intensity | 7 |
| nssv18293475 | duplication | OSC4108 | SNP array | Probe signal intensity | 5 |
| nssv18294119 | duplication | OSC4328 | SNP array | Probe signal intensity | nssv18294363, nssv18294690, nssv18294691 |
| nssv18294331 | duplication | OSC4307 | SNP array | Probe signal intensity | |
| nssv18294971 | duplication | OSC4291 | SNP array | Probe signal intensity | 6 |
| nssv18295693 | duplication | OSC4636 | SNP array | Probe signal intensity | 7 |
| nssv18297084 | duplication | OSC0046 | SNP array | Probe signal intensity | 8 |
| nssv18320582 | duplication | OSC0983 | SNP array | Probe signal intensity | nssv18320864, nssv18320326 |
| nssv18320825 | duplication | OSC0955 | SNP array | Probe signal intensity | nssv18320826, nssv18320824, nssv18320823 |
| nssv18323164 | duplication | OSC1501 | SNP array | Probe signal intensity | 7 |
| nssv18323852 | duplication | OSC1534 | SNP array | Probe signal intensity | 6 |
| nssv18324174 | duplication | OSC0162 | SNP array | Probe signal intensity | nssv18323901, nssv18323541, nssv18324183 |
| nssv18324261 | duplication | OSC1632 | SNP array | Probe signal intensity | 5 |
| nssv18324744 | duplication | OSC1780 | SNP array | Probe signal intensity | nssv18324745, nssv18324743, nssv18324746 |
| nssv18325064 | duplication | OSC1743 | SNP array | Probe signal intensity | nssv18324707, nssv18325065 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281742 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18283326 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18285577 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18287701 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18288515 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18292365 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18293475 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18294119 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18294331 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18294971 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18295693 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18297084 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18320582 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18320825 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18323164 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18323852 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18324174 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18324261 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18324744 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18325064 | Remapped | Perfect | NC_000001.11:g.(?_ 103550949)_(103585 996_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,550,949 | 103,585,996 |
| nssv18281742 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18283326 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18285577 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18287701 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18288515 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18292365 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18293475 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18294119 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18294331 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18294971 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18295693 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18297084 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18320582 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18320825 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18323164 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18323852 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18324174 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18324261 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18324744 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 | ||
| nssv18325064 | Submitted genomic | NC_000001.10:g.(?_ 104093571)_(104128 618_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 104,093,571 | 104,128,618 |