nsv3915681
- 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:29,656,504
- Description:GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)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: 98099 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 95771 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 28729 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915681 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 77,222,795 | 106,879,298 |
| nsv3915681 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 77,689,138 | 107,287,505 |
| nsv3915681 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 76,758,891 | 106,358,550 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161081 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138230.5, VCV000149176.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161081 | Submitted genomic | NC_000014.9:g.(?_7 7222795)_(10687929 8_?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 77,222,795 | 106,879,298 |
| nssv15161081 | Submitted genomic | NC_000014.8:g.(?_7 7689138)_(10728750 5_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 77,689,138 | 107,287,505 |
| nssv15161081 | Submitted genomic | NC_000014.7:g.(?_7 6758891)_(10635855 0_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 76,758,891 | 106,358,550 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161081 | GRCh37: NC_000014.8:g.(?_77689138)_(107287505_?)dup, GRCh38: NC_000014.9:g.(?_77222795)_(106879298_?)dup, NCBI36: NC_000014.7:g.(?_76758891)_(106358550_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138230.5, VCV000149176.2 | 3 |