nsv4372792
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,165
- 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: 675 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 675 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4372792 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nsv4372792 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15616591 | copy number gain | 1-0861-003 | SNP array | Genotyping | 19 |
| nssv15619193 | copy number gain | 1-0181-002 | SNP array | Genotyping | 20 |
| nssv15624711 | copy number gain | 1-0332-002 | SNP array | Genotyping | 28 |
| nssv15625346 | copy number gain | 1-0332-003 | SNP array | Genotyping | 22 |
| nssv15625740 | copy number gain | 1-0346-003 | SNP array | Genotyping | 18 |
| nssv15634422 | copy number gain | 11-0038-003 | SNP array | Genotyping | 26 |
| nssv15637785 | copy number gain | 14-0170-003 | SNP array | Genotyping | 20 |
| nssv15639812 | copy number gain | 14-0227-001 | SNP array | Genotyping | 13 |
| nssv15639906 | copy number gain | 14-0250-004 | SNP array | Genotyping | 30 |
| nssv15640251 | copy number gain | 14-0124-002 | SNP array | Genotyping | 22 |
| nssv15640643 | copy number gain | 14-0349-003 | SNP array | Genotyping | 20 |
| nssv15647855 | copy number gain | 2-1303-002 | SNP array | Genotyping | 23 |
| nssv15648626 | copy number gain | 2-1258-003 | SNP array | Genotyping | 22 |
| nssv15649322 | copy number gain | 2-1375-001 | SNP array | Genotyping | 22 |
| nssv15659105 | copy number gain | 4-0062-002 | SNP array | Genotyping | 36 |
| nssv15661931 | copy number gain | 5-0068-002 | SNP array | Genotyping | 29 |
| nssv15665584 | copy number gain | 7-0107-002 | SNP array | Genotyping | 28 |
| nssv15667702 | copy number gain | 6-0443-003 | SNP array | Genotyping | 20 |
| nssv15672035 | copy number gain | 9-0012-002 | SNP array | Genotyping | 24 |
| nssv15684950 | copy number gain | OCD156-BA-1232(189802) | SNP array | Genotyping | 23 |
| nssv15699946 | copy number gain | 200424 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15616591 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15619193 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15624711 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15625346 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15625740 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15634422 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15637785 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15639812 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15639906 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15640251 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15640643 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15647855 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15648626 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15649322 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15659105 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15661931 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15665584 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15667702 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15672035 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15684950 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15699946 | Remapped | Perfect | NC_000007.14:g.(?_ 38255382)_(3831254 6_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,255,382 | 38,312,546 |
| nssv15616591 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15619193 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15624711 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15625346 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15625740 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15634422 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15637785 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15639812 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15639906 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15640251 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15640643 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15647855 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15648626 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15649322 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15659105 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15661931 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15665584 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15667702 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15672035 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15684950 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 | ||
| nssv15699946 | Submitted genomic | NC_000007.13:g.(?_ 38294983)_(3835214 7_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 38,294,983 | 38,352,147 |