nsv3920598
- 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:43,469,929
- Description:GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)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: 118602 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 112677 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 32032 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 |
|---|---|---|---|---|---|---|---|
| nsv3920598 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 4,604,734 | 48,074,662 |
| nsv3920598 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 4,646,926 | 47,531,169 |
| nsv3920598 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 4,636,926 | 47,125,152 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161096 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000141497.6, VCV000152998.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161096 | Submitted genomic | NC_000010.11:g.(?_ 4604734)_(48074662 _?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 4,604,734 | 48,074,662 |
| nssv15161096 | Submitted genomic | NC_000010.10:g.(?_ 4646926)_(47531169 _?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 4,646,926 | 47,531,169 |
| nssv15161096 | Submitted genomic | NC_000010.9:g.(?_4 636926)_(47125152_ ?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 4,636,926 | 47,125,152 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161096 | GRCh37: NC_000010.10:g.(?_4646926)_(47531169_?)dup, GRCh38: NC_000010.11:g.(?_4604734)_(48074662_?)dup, NCBI36: NC_000010.9:g.(?_4636926)_(47125152_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000141497.6, VCV000152998.2 | 3 |