nsv3922280
- 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:939,930
- Description:GRCh38/hg38 14q23.2(chr14:63153722-64093651)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: 2923 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2925 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 598 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922280 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 63,153,722 | 64,093,651 |
| nsv3922280 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 63,620,440 | 64,560,369 |
| nsv3922280 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 62,690,193 | 63,630,122 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135605 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138644.4, VCV000149661.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135605 | Submitted genomic | NC_000014.9:g.(?_6 3153722)_(64093651 _?)dup | GRCh38 (hg38) | NC_000014.9 | Chr14 | 63,153,722 | 64,093,651 |
| nssv15135605 | Submitted genomic | NC_000014.8:g.(?_6 3620440)_(64560369 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 63,620,440 | 64,560,369 |
| nssv15135605 | Submitted genomic | NC_000014.7:g.(?_6 2690193)_(63630122 _?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 62,690,193 | 63,630,122 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135605 | GRCh37: NC_000014.8:g.(?_63620440)_(64560369_?)dup, GRCh38: NC_000014.9:g.(?_63153722)_(64093651_?)dup, NCBI36: NC_000014.7:g.(?_62690193)_(63630122_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000138644.4, VCV000149661.2 | 3 |