nsv3916432
- 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:37,177
- Description:GRCh38/hg38 15q26.3(chr15:101686039-101723215)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: 475 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 475 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916432 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 101,686,039 | 101,723,215 |
| nsv3916432 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 102,226,242 | 102,263,418 |
| nsv3916432 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 100,043,765 | 100,080,941 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136319 | copy number gain | Multiple | Multiple | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000137051.6, VCV000147947.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136319 | Submitted genomic | NC_000015.10:g.(?_ 101686039)_(101723 215_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 101,686,039 | 101,723,215 |
| nssv15136319 | Submitted genomic | NC_000015.9:g.(?_1 02226242)_(1022634 18_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 102,226,242 | 102,263,418 |
| nssv15136319 | Submitted genomic | NC_000015.8:g.(?_1 00043765)_(1000809 41_?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 100,043,765 | 100,080,941 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136319 | GRCh37: NC_000015.9:g.(?_102226242)_(102263418_?)dup, GRCh38: NC_000015.10:g.(?_101686039)_(101723215_?)dup, NCBI36: NC_000015.8:g.(?_100043765)_(100080941_?)dup | copy number gain | see ClinVar for details | See cases | Conflicting interpretations of pathogenicity | ClinVar | RCV000137051.6, VCV000147947.3 | 3 |