nsv4728915
- 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:264,629
- Description:GRCh37/hg19 9q21.2(chr9:79706373-79971001)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: 681 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 681 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728915 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 77,091,457 | 77,356,085 |
| nsv4728915 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 79,706,373 | 79,971,001 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254794 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258439.1, VCV000979263.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254794 | Remapped | Perfect | NC_000009.12:g.(?_ 77091457)_(7735608 5_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 77,091,457 | 77,356,085 |
| nssv16254794 | Submitted genomic | NC_000009.11:g.(?_ 79706373)_(7997100 1_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 79,706,373 | 79,971,001 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254794 | GRCh37: NC_000009.11:g.(?_79706373)_(79971001_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258439.1, VCV000979263.1 | 3 |