nsv4685577
- 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:16,428,074
- Description:GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)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: 41477 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 41395 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685577 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 194,387,295 | 210,815,368 |
| nsv4685577 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 194,356,425 | 210,988,710 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16216671 | copy number gain | Multiple | Multiple | not provided | not provided | ClinVar | RCV001249273.1, VCV000972964.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216671 | Remapped | Good | NC_000001.11:g.(?_ 194387295)_(210815 368_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 194,387,295 | 210,815,368 |
| nssv16216671 | Submitted genomic | NC_000001.10:g.(?_ 194356425)_(210988 710_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 194,356,425 | 210,988,710 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16216671 | GRCh37: NC_000001.10:g.(?_194356425)_(210988710_?)dup | copy number gain | unknown | not provided | not provided | ClinVar | RCV001249273.1, VCV000972964.1 | 3 |