nsv3923011
- 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:27,333,841
- Description:GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)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: 66052 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 66075 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 16241 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 |
|---|---|---|---|---|---|---|---|
| nsv3923011 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 66,171,669 | 93,505,509 |
| nsv3923011 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 67,083,904 | 94,517,737 |
| nsv3923011 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 67,246,458 | 94,586,913 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161544 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137050.4, VCV000147946.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161544 | Submitted genomic | NC_000008.11:g.(?_ 66171669)_(9350550 9_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 66,171,669 | 93,505,509 |
| nssv15161544 | Submitted genomic | NC_000008.10:g.(?_ 67083904)_(9451773 7_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 67,083,904 | 94,517,737 |
| nssv15161544 | Submitted genomic | NC_000008.9:g.(?_6 7246458)_(94586913 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 67,246,458 | 94,586,913 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161544 | GRCh37: NC_000008.10:g.(?_67083904)_(94517737_?)dup, GRCh38: NC_000008.11:g.(?_66171669)_(93505509_?)dup, NCBI36: NC_000008.9:g.(?_67246458)_(94586913_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137050.4, VCV000147946.2 | 3 |