nsv4346788
- 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:3,595,501
- Description:GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8199 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 8200 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4346788 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 32,393,814 | 35,989,314 |
| nsv4346788 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 32,859,415 | 36,454,915 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605940 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767772.1, VCV000625764.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605940 | Remapped | Perfect | NC_000001.11:g.(?_ 32393814)_(3598931 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 32,393,814 | 35,989,314 |
| nssv15605940 | Submitted genomic | NC_000001.10:g.(?_ 32859415)_(3645491 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 32,859,415 | 36,454,915 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605940 | GRCh37: NC_000001.10:g.(?_32859415)_(36454915_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000767772.1, VCV000625764.1 |