nsv3914883
- 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:12,322,676
- Description:GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)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: 35523 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 35525 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 9484 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914883 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 92,540,983 | 104,863,658 |
| nsv3914883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 93,007,328 | 105,329,995 |
| nsv3914883 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 92,077,081 | 104,401,040 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161323 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135896.6, VCV000146638.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161323 | Submitted genomic | NC_000014.9:g.(?_9 2540983)_(10486365 8_?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 92,540,983 | 104,863,658 |
| nssv15161323 | Submitted genomic | NC_000014.8:g.(?_9 3007328)_(10532999 5_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 93,007,328 | 105,329,995 |
| nssv15161323 | Submitted genomic | NC_000014.7:g.(?_9 2077081)_(10440104 0_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 92,077,081 | 104,401,040 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161323 | GRCh37: NC_000014.8:g.(?_93007328)_(105329995_?)dup, GRCh38: NC_000014.9:g.(?_92540983)_(104863658_?)dup, NCBI36: NC_000014.7:g.(?_92077081)_(104401040_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135896.6, VCV000146638.2 | 3 |