nsv3917589
- 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:42,092,539
- Description:GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)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: 113528 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 113704 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 30767 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 |
|---|---|---|---|---|---|---|---|
| nsv3917589 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 59,828,460 | 101,920,998 |
| nsv3917589 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 60,120,659 | 102,461,201 |
| nsv3917589 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 57,907,951 | 100,278,724 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146047 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142915.6, VCV000154848.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146047 | Submitted genomic | NC_000015.10:g.(?_ 59828460)_(1019209 98_?)dup | GRCh38 (hg38) | NC_000015.10 | Chr15 | 59,828,460 | 101,920,998 |
| nssv15146047 | Submitted genomic | NC_000015.9:g.(?_6 0120659)_(10246120 1_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 60,120,659 | 102,461,201 |
| nssv15146047 | Submitted genomic | NC_000015.8:g.(?_5 7907951)_(10027872 4_?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 57,907,951 | 100,278,724 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146047 | GRCh37: NC_000015.9:g.(?_60120659)_(102461201_?)dup, GRCh38: NC_000015.10:g.(?_59828460)_(101920998_?)dup, NCBI36: NC_000015.8:g.(?_57907951)_(100278724_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142915.6, VCV000154848.2 | 3 |