nsv3919727
- 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:12,271,266
- Description:GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)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: 34118 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 34123 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 9703 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919727 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 55,287,177 | 67,558,442 |
| nsv3919727 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 57,046,937 | 69,318,200 |
| nsv3919727 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 56,716,943 | 68,988,206 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147523 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141179.4, VCV000152646.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147523 | Submitted genomic | NC_000010.11:g.(?_ 55287177)_(6755844 2_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,287,177 | 67,558,442 |
| nssv15147523 | Submitted genomic | NC_000010.10:g.(?_ 57046937)_(6931820 0_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 57,046,937 | 69,318,200 |
| nssv15147523 | Submitted genomic | NC_000010.9:g.(?_5 6716943)_(68988206 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 56,716,943 | 68,988,206 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147523 | GRCh37: NC_000010.10:g.(?_57046937)_(69318200_?)dup, GRCh38: NC_000010.11:g.(?_55287177)_(67558442_?)dup, NCBI36: NC_000010.9:g.(?_56716943)_(68988206_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141179.4, VCV000152646.1 | 3 |