nsv3884583
- 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:18,232,897
- Description:GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 43259 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 43262 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884583 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 60,885,352 | 79,118,248 |
| nsv3884583 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 61,351,024 | 79,583,933 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151300 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512152.2, VCV000441647.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151300 | Remapped | Perfect | NC_000001.11:g.(?_ 60885352)_(7911824 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 60,885,352 | 79,118,248 |
| nssv15151300 | Submitted genomic | NC_000001.10:g.(?_ 61351024)_(7958393 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 61,351,024 | 79,583,933 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151300 | GRCh37: NC_000001.10:g.(?_61351024)_(79583933_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000512152.2, VCV000441647.2 | 1 |