nsv4676071
- 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:2,097,450
- Description:GRCh37/hg19 13q31.3-32.1(chr13:94896219-96993668)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: 5455 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 5455 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676071 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 94,243,965 | 96,341,414 |
| nsv4676071 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 94,896,219 | 96,993,668 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207184 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006588.1, VCV000815611.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207184 | Remapped | Perfect | NC_000013.11:g.(?_ 94243965)_(9634141 4_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 94,243,965 | 96,341,414 |
| nssv16207184 | Submitted genomic | NC_000013.10:g.(?_ 94896219)_(9699366 8_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 94,896,219 | 96,993,668 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207184 | GRCh37: NC_000013.10:g.(?_94896219)_(96993668_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006588.1, VCV000815611.1 | 3 |