nsv4384709
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,291
- 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: 682 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 685 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4384709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nsv4384709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15614033 | copy number loss | 1-0729-003 | SNP array | Genotyping | 17 |
| nssv15617766 | copy number loss | 1-0850-004 | SNP array | Genotyping | 17 |
| nssv15622030 | copy number loss | 1-0208-002 | SNP array | Genotyping | 22 |
| nssv15625293 | copy number loss | 1-0291-005 | SNP array | Genotyping | 22 |
| nssv15632715 | copy number loss | 10-0006-003 | SNP array | Genotyping | 22 |
| nssv15634953 | copy number loss | 12-4425-003 | SNP array | Genotyping | 20 |
| nssv15650590 | copy number loss | 2-1336-002 | SNP array | Genotyping | 17 |
| nssv15650739 | copy number loss | 2-1363-003 | SNP array | Genotyping | 26 |
| nssv15653066 | copy number loss | 2-1620-004 | SNP array | Genotyping | 27 |
| nssv15660388 | copy number loss | 3-0728-000 | SNP array | Genotyping | 13 |
| nssv15664182 | copy number loss | 7-0049-003 | SNP array | Genotyping | 20 |
| nssv15665136 | copy number loss | 7-0056-003 | SNP array | Genotyping | 21 |
| nssv15676621 | copy number loss | 176714 | SNP array | Genotyping | 18 |
| nssv15685070 | copy number loss | OCD158-NA-224(188564) | SNP array | Genotyping | 18 |
| nssv15689264 | copy number loss | OCD10-S_896171 | SNP array | Genotyping | 23 |
| nssv15694867 | copy number gain | 221446 | SNP array | Genotyping | 22 |
| nssv15695736 | copy number loss | 230572 | SNP array | Genotyping | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15614033 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15617766 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15622030 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15625293 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15632715 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15634953 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15650590 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15650739 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15653066 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15660388 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15664182 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15665136 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15676621 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15685070 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15689264 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15694867 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15695736 | Remapped | Perfect | NC_000001.11:g.(?_ 169246861)_(169286 151_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,246,861 | 169,286,151 |
| nssv15614033 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15617766 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15622030 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15625293 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15632715 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15634953 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15650590 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15650739 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15653066 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15660388 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15664182 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15665136 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15676621 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15685070 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15689264 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15694867 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 | ||
| nssv15695736 | Submitted genomic | NC_000001.10:g.(?_ 169216099)_(169255 389_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,216,099 | 169,255,389 |