nsv3919948
- 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:15,331,875
- Description:GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 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: 54949 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 54684 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 14249 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919948 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 122,792,658 | 138,124,532 |
| nsv3919948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 125,554,937 | 141,018,984 |
| nsv3919948 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 124,594,758 | 140,138,805 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145674 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051040.7, VCV000057353.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145674 | Submitted genomic | NC_000009.12:g.(?_ 122792658)_(138124 532_?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 122,792,658 | 138,124,532 |
| nssv15145674 | Submitted genomic | NC_000009.11:g.(?_ 125554937)_(141018 984_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 125,554,937 | 141,018,984 |
| nssv15145674 | Submitted genomic | NC_000009.10:g.(?_ 124594758)_(140138 805_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 124,594,758 | 140,138,805 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145674 | GRCh37: NC_000009.11:g.(?_125554937)_(141018984_?)dup, GRCh38: NC_000009.12:g.(?_122792658)_(138124532_?)dup, NCBI36: NC_000009.10:g.(?_124594758)_(140138805_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051040.7, VCV000057353.1 | 3 |