nsv3923714
- 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:70,437,320
- Description:GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)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: 143515 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 143742 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 36534 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923714 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 193,412 | 70,630,731 |
| nsv3923714 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 220,253 | 73,245,647 |
| nsv3923714 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 210,253 | 72,435,467 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145821 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136152.5, VCV000146931.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145821 | Submitted genomic | NC_000009.12:g.(?_ 193412)_(70630731_ ?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 193,412 | 70,630,731 |
| nssv15145821 | Submitted genomic | NC_000009.11:g.(?_ 220253)_(73245647_ ?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 220,253 | 73,245,647 |
| nssv15145821 | Submitted genomic | NC_000009.10:g.(?_ 210253)_(72435467_ ?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 210,253 | 72,435,467 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145821 | GRCh37: NC_000009.11:g.(?_220253)_(73245647_?)dup, GRCh38: NC_000009.12:g.(?_193412)_(70630731_?)dup, NCBI36: NC_000009.10:g.(?_210253)_(72435467_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136152.5, VCV000146931.2 | 3 |