nsv3924370
- 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:3,582,082
- Description:GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)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: 10359 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 10361 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 2530 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924370 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 125,055,865 | 128,637,946 |
| nsv3924370 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 127,818,144 | 131,400,225 |
| nsv3924370 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 126,857,965 | 130,440,046 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134565 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137787.5, VCV000148721.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134565 | Submitted genomic | NC_000009.12:g.(?_ 125055865)_(128637 946_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 125,055,865 | 128,637,946 |
| nssv15134565 | Submitted genomic | NC_000009.11:g.(?_ 127818144)_(131400 225_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 127,818,144 | 131,400,225 |
| nssv15134565 | Submitted genomic | NC_000009.10:g.(?_ 126857965)_(130440 046_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 126,857,965 | 130,440,046 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134565 | GRCh37: NC_000009.11:g.(?_127818144)_(131400225_?)del, GRCh38: NC_000009.12:g.(?_125055865)_(128637946_?)del, NCBI36: NC_000009.10:g.(?_126857965)_(130440046_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137787.5, VCV000148721.2 | 1 |