nsv4371784
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,195
- 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: 200 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4371784 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | 47,276,396 | 47,303,590 |
| nsv4371784 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 48,169,844 | 48,222,687 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619010 | copy number gain | 1-0912-001 | SNP array | Genotyping | 28 |
| nssv15623780 | copy number gain | 1-0236-005 | SNP array | Genotyping | 25 |
| nssv15641327 | copy number gain | 14-0312-004 | SNP array | Genotyping | 22 |
| nssv15648461 | copy number gain | 2-1329-003 | SNP array | Genotyping | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619010 | Remapped | Pass | NC_000008.11:g.(?_ 47276396)_(4730359 0_?)dup | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 47,276,396 | 47,303,590 |
| nssv15623780 | Remapped | Pass | NC_000008.11:g.(?_ 47276396)_(4730359 0_?)dup | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 47,276,396 | 47,303,590 |
| nssv15641327 | Remapped | Pass | NC_000008.11:g.(?_ 47276396)_(4730359 0_?)dup | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 47,276,396 | 47,303,590 |
| nssv15648461 | Remapped | Pass | NC_000008.11:g.(?_ 47276396)_(4730359 0_?)dup | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 47,276,396 | 47,303,590 |
| nssv15619010 | Submitted genomic | NC_000008.10:g.(?_ 48169844)_(4822268 7_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 48,169,844 | 48,222,687 | ||
| nssv15623780 | Submitted genomic | NC_000008.10:g.(?_ 48169844)_(4822268 7_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 48,169,844 | 48,222,687 | ||
| nssv15641327 | Submitted genomic | NC_000008.10:g.(?_ 48169844)_(4822268 7_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 48,169,844 | 48,222,687 | ||
| nssv15648461 | Submitted genomic | NC_000008.10:g.(?_ 48169844)_(4822268 7_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 48,169,844 | 48,222,687 |