nsv3914561
- 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:11,355,095
- Description:GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)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: 50222 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 47888 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 17022 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914561 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 95,524,407 | 106,879,501 |
| nsv3914561 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 95,990,744 | 107,287,708 |
| nsv3914561 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 95,060,497 | 106,358,753 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161324 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136032.5, VCV000146793.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161324 | Submitted genomic | NC_000014.9:g.(?_9 5524407)_(10687950 1_?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 95,524,407 | 106,879,501 |
| nssv15161324 | Submitted genomic | NC_000014.8:g.(?_9 5990744)_(10728770 8_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 95,990,744 | 107,287,708 |
| nssv15161324 | Submitted genomic | NC_000014.7:g.(?_9 5060497)_(10635875 3_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 95,060,497 | 106,358,753 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161324 | GRCh37: NC_000014.8:g.(?_95990744)_(107287708_?)del, GRCh38: NC_000014.9:g.(?_95524407)_(106879501_?)del, NCBI36: NC_000014.7:g.(?_95060497)_(106358753_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136032.5, VCV000146793.2 | 1 |