nsv3924415
- 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:6,139,804
- Description:GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)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: 13564 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 13558 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 3326 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924415 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 60,519,222 | 66,659,025 |
| nsv3924415 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 61,431,781 | 67,571,260 |
| nsv3924415 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 61,594,335 | 67,733,814 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161313 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134830.5, VCV000145461.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161313 | Submitted genomic | NC_000008.11:g.(?_ 60519222)_(6665902 5_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 60,519,222 | 66,659,025 |
| nssv15161313 | Submitted genomic | NC_000008.10:g.(?_ 61431781)_(6757126 0_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 61,431,781 | 67,571,260 |
| nssv15161313 | Submitted genomic | NC_000008.9:g.(?_6 1594335)_(67733814 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 61,594,335 | 67,733,814 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161313 | GRCh37: NC_000008.10:g.(?_61431781)_(67571260_?)dup, GRCh38: NC_000008.11:g.(?_60519222)_(66659025_?)dup, NCBI36: NC_000008.9:g.(?_61594335)_(67733814_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134830.5, VCV000145461.2 | 3 |