nsv3916768
- 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:23,272,454
- Description:GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)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: 54456 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 54426 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 13339 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 |
|---|---|---|---|---|---|---|---|
| nsv3916768 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 46,031,334 | 69,303,787 |
| nsv3916768 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 46,942,956 | 70,216,022 |
| nsv3916768 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 47,062,121 | 70,378,576 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161758 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133720.5, VCV000144238.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161758 | Submitted genomic | NC_000008.11:g.(?_ 46031334)_(6930378 7_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 46,031,334 | 69,303,787 |
| nssv15161758 | Submitted genomic | NC_000008.10:g.(?_ 46942956)_(7021602 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 46,942,956 | 70,216,022 |
| nssv15161758 | Submitted genomic | NC_000008.9:g.(?_4 7062121)_(70378576 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 47,062,121 | 70,378,576 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161758 | GRCh37: NC_000008.10:g.(?_46942956)_(70216022_?)dup, GRCh38: NC_000008.11:g.(?_46031334)_(69303787_?)dup, NCBI36: NC_000008.9:g.(?_47062121)_(70378576_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133720.5, VCV000144238.2 | 3 |