nsv3916978
- 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:50,722,004
- Description:GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)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: 127288 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 127323 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 31858 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 |
|---|---|---|---|---|---|---|---|
| nsv3916978 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 86,300,584 | 137,022,587 |
| nsv3916978 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 87,312,813 | 138,034,830 |
| nsv3916978 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 87,381,929 | 138,104,012 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161773 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135621.5, VCV000146316.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161773 | Submitted genomic | NC_000008.11:g.(?_ 86300584)_(1370225 87_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 86,300,584 | 137,022,587 |
| nssv15161773 | Submitted genomic | NC_000008.10:g.(?_ 87312813)_(1380348 30_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 87,312,813 | 138,034,830 |
| nssv15161773 | Submitted genomic | NC_000008.9:g.(?_8 7381929)_(13810401 2_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 87,381,929 | 138,104,012 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161773 | GRCh37: NC_000008.10:g.(?_87312813)_(138034830_?)dup, GRCh38: NC_000008.11:g.(?_86300584)_(137022587_?)dup, NCBI36: NC_000008.9:g.(?_87381929)_(138104012_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135621.5, VCV000146316.2 | 3 |