nsv3921353
- 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:160,086
- Description:GRCh38/hg38 10p15.1(chr10:5406594-5566679)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: 563 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 563 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921353 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 5,406,594 | 5,566,679 |
| nsv3921353 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 5,448,557 | 5,608,642 |
| nsv3921353 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 5,438,557 | 5,598,642 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122744 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141298.3, VCV000152787.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122744 | Submitted genomic | NC_000010.11:g.(?_ 5406594)_(5566679_ ?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 5,406,594 | 5,566,679 |
| nssv15122744 | Submitted genomic | NC_000010.10:g.(?_ 5448557)_(5608642_ ?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 5,448,557 | 5,608,642 |
| nssv15122744 | Submitted genomic | NC_000010.9:g.(?_5 438557)_(5598642_? )dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 5,438,557 | 5,598,642 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122744 | GRCh37: NC_000010.10:g.(?_5448557)_(5608642_?)dup, GRCh38: NC_000010.11:g.(?_5406594)_(5566679_?)dup, NCBI36: NC_000010.9:g.(?_5438557)_(5598642_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141298.3, VCV000152787.1 | 3 |