nsv3915762
- 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:123,778,864
- Description:GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)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: 316639 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 316350 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 79149 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915762 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 21,291,522 | 145,070,385 |
| nsv3915762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 21,149,033 | 146,295,771 |
| nsv3915762 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 21,193,313 | 146,266,575 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161357 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142021.7, VCV000153737.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161357 | Submitted genomic | NC_000008.11:g.(?_ 21291522)_(1450703 85_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 21,291,522 | 145,070,385 |
| nssv15161357 | Submitted genomic | NC_000008.10:g.(?_ 21149033)_(1462957 71_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 21,149,033 | 146,295,771 |
| nssv15161357 | Submitted genomic | NC_000008.9:g.(?_2 1193313)_(14626657 5_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 21,193,313 | 146,266,575 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161357 | GRCh37: NC_000008.10:g.(?_21149033)_(146295771_?)dup, GRCh38: NC_000008.11:g.(?_21291522)_(145070385_?)dup, NCBI36: NC_000008.9:g.(?_21193313)_(146266575_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142021.7, VCV000153737.2 | 3 |