nsv3923448
- 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:4,165,351
- Description:GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 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: 12023 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 12014 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2707 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923448 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 73,877,072 | 78,042,422 |
| nsv3923448 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 74,343,775 | 78,508,765 |
| nsv3923448 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 73,413,528 | 77,578,518 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161729 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051548.5, VCV000057808.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161729 | Submitted genomic | NC_000014.9:g.(?_7 3877072)_(78042422 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 73,877,072 | 78,042,422 |
| nssv15161729 | Submitted genomic | NC_000014.8:g.(?_7 4343775)_(78508765 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 74,343,775 | 78,508,765 |
| nssv15161729 | Submitted genomic | NC_000014.7:g.(?_7 3413528)_(77578518 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 73,413,528 | 77,578,518 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161729 | GRCh37: NC_000014.8:g.(?_74343775)_(78508765_?)del, GRCh38: NC_000014.9:g.(?_73877072)_(78042422_?)del, NCBI36: NC_000014.7:g.(?_73413528)_(77578518_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051548.5, VCV000057808.1 | 1 |