nsv3884446
- 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:141,477
- Description:GRCh37/hg19 1q21.2(chr1:149802401-149944241)x3 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: 304 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 345 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884446 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 149,830,837 | 149,972,313 |
| nsv3884446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 149,802,401 | 149,944,241 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15156401 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000684654.1, VCV000565179.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15156401 | Remapped | Good | NC_000001.11:g.(?_ 149830837)_(149972 313_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 149,830,837 | 149,972,313 |
| nssv15156401 | Submitted genomic | NC_000001.10:g.(?_ 149802401)_(149944 241_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 149,802,401 | 149,944,241 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15156401 | GRCh37: NC_000001.10:g.(?_149802401)_(149944241_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV000684654.1, VCV000565179.1 | 3 |