nsv6313671
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:10,497,026
- Description:GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 22642 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 21118 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313671 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 111,104,960 | 121,601,985 |
| nsv6313671 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 111,647,582 | 121,343,783 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970130 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053602.3, VCV001527270.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970130 | Remapped | Pass | NC_000001.11:g.(?_ 111104960)_(121601 985_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 111,104,960 | 121,601,985 |
| nssv17970130 | Submitted genomic | NC_000001.10:g.(?_ 111647582)_(121343 783_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 111,647,582 | 121,343,783 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970130 | GRCh37: NC_000001.10:g.(?_111647582)_(121343783_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053602.3, VCV001527270.3 |