nsv3885743
- 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:20,460,674
- Description:GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)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: 49057 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 49049 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885743 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 71,578,861 | 92,039,534 |
| nsv3885743 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,044,544 | 92,505,091 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149488 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510161.2, VCV000441908.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149488 | Remapped | Good | NC_000001.11:g.(?_ 71578861)_(9203953 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 71,578,861 | 92,039,534 |
| nssv15149488 | Submitted genomic | NC_000001.10:g.(?_ 72044544)_(9250509 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,044,544 | 92,505,091 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149488 | GRCh37: NC_000001.10:g.(?_72044544)_(92505091_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000510161.2, VCV000441908.2 | 1 |