nsv3911231
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,209,335
- Description:GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)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: 9519 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 9525 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 2129 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911231 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 33,572,681 | 36,782,015 |
| nsv3911231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 33,572,679 | 36,782,012 |
| nsv3911231 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 33,562,679 | 36,772,012 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132770 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134762.4, VCV000145374.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132770 | Submitted genomic | NC_000009.12:g.(?_ 33572681)_(3678201 5_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 33,572,681 | 36,782,015 |
| nssv15132770 | Submitted genomic | NC_000009.11:g.(?_ 33572679)_(3678201 2_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 33,572,679 | 36,782,012 |
| nssv15132770 | Submitted genomic | NC_000009.10:g.(?_ 33562679)_(3677201 2_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 33,562,679 | 36,772,012 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132770 | GRCh37: NC_000009.11:g.(?_33572679)_(36782012_?)del, GRCh38: NC_000009.12:g.(?_33572681)_(36782015_?)del, NCBI36: NC_000009.10:g.(?_33562679)_(36772012_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134762.4, VCV000145374.2 | 1 |