nsv4374109
- 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:861,938
- 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: 1845 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1846 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4374109 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 109,746,742 | 110,608,679 |
| nsv4374109 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 110,504,319 | 111,366,256 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15613187 | copy number loss | 1-0677-003 | SNP array | Genotyping | 18 |
| nssv15615536 | copy number gain | 1-0795-003 | SNP array | Genotyping | 24 |
| nssv15684721 | copy number gain | OCD154-896621 | SNP array | Genotyping | 25 |
| nssv15697231 | copy number loss | 155931 | SNP array | Genotyping | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15613187 | Remapped | Perfect | NC_000002.12:g.(?_ 109746742)_(110608 679_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 109,746,742 | 110,608,679 |
| nssv15615536 | Remapped | Perfect | NC_000002.12:g.(?_ 109746742)_(110608 679_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 109,746,742 | 110,608,679 |
| nssv15684721 | Remapped | Perfect | NC_000002.12:g.(?_ 109746742)_(110608 679_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 109,746,742 | 110,608,679 |
| nssv15697231 | Remapped | Perfect | NC_000002.12:g.(?_ 109746742)_(110608 679_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 109,746,742 | 110,608,679 |
| nssv15613187 | Submitted genomic | NC_000002.11:g.(?_ 110504319)_(111366 256_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 110,504,319 | 111,366,256 | ||
| nssv15615536 | Submitted genomic | NC_000002.11:g.(?_ 110504319)_(111366 256_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 110,504,319 | 111,366,256 | ||
| nssv15684721 | Submitted genomic | NC_000002.11:g.(?_ 110504319)_(111366 256_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 110,504,319 | 111,366,256 | ||
| nssv15697231 | Submitted genomic | NC_000002.11:g.(?_ 110504319)_(111366 256_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 110,504,319 | 111,366,256 |