nsv4384952
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:62,783
- Publication(s):Zarrei et al. 2019
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: 702 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 702 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4384952 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nsv4384952 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15623735 | copy number gain | 1-0275-003 | SNP array | Genotyping | 27 |
| nssv15627548 | copy number gain | 1-0489-001 | SNP array | Genotyping | 21 |
| nssv15627852 | copy number gain | 1-0455-001 | SNP array | Genotyping | 28 |
| nssv15643846 | copy number gain | 16-1005-002 | SNP array | Genotyping | 22 |
| nssv15658712 | copy number gain | 3-0547-000 | SNP array | Genotyping | 24 |
| nssv15665712 | copy number gain | 7-0085-003 | SNP array | Genotyping | 22 |
| nssv15679678 | copy number gain | 193297 | SNP array | Genotyping | 16 |
| nssv15682759 | copy number gain | OCD1130-5299 | SNP array | Genotyping | 19 |
| nssv15688439 | copy number gain | OCD19-S_896373 | SNP array | Genotyping | 17 |
| nssv15690947 | copy number gain | OCD178-LS-1807 | SNP array | Genotyping | 15 |
| nssv15692909 | copy number gain | OCD77-896702 | SNP array | Genotyping | 23 |
| nssv15693781 | copy number gain | OCD69-896072 | SNP array | Genotyping | 13 |
| nssv15694418 | copy number gain | OCD89-0625-2318-1 | SNP array | Genotyping | 16 |
| nssv15696321 | copy number gain | 158168 | SNP array | Genotyping | 14 |
| nssv15696603 | copy number gain | 160876 | SNP array | Genotyping | 13 |
| nssv15698473 | copy number gain | 223795 | SNP array | Genotyping | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15623735 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15627548 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15627852 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15643846 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15658712 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15665712 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15679678 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15682759 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15688439 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15690947 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15692909 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15693781 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15694418 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15696321 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15696603 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15698473 | Remapped | Perfect | NC_000007.14:g.(?_ 38254349)_(3831713 1_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,254,349 | 38,317,131 |
| nssv15623735 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15627548 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15627852 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15643846 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15658712 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15665712 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15679678 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15682759 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15688439 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15690947 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15692909 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15693781 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15694418 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15696321 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15696603 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 | ||
| nssv15698473 | Submitted genomic | NC_000007.13:g.(?_ 38293950)_(3835673 2_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,293,950 | 38,356,732 |