nsv4456840
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:55,080
- Description:GRCh37/hg19 14q24.1(chr14:69921280-69976359)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 176 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4456840 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 69,454,563 | 69,509,642 |
nsv4456840 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 69,921,280 | 69,976,359 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15776043 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848496.2, VCV000687805.2 | 3 |
nssv15776050 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848507.2, VCV000687816.2 | 3 |
nssv15776725 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849896.2, VCV000689205.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15776043 | Remapped | Perfect | NC_000014.9:g.(?_6 9454563)_(69509642 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 69,454,563 | 69,509,642 |
nssv15776050 | Remapped | Perfect | NC_000014.9:g.(?_6 9454563)_(69509642 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 69,454,563 | 69,509,642 |
nssv15776725 | Remapped | Perfect | NC_000014.9:g.(?_6 9454563)_(69509642 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 69,454,563 | 69,509,642 |
nssv15776043 | Submitted genomic | NC_000014.8:g.(?_6 9921280)_(69976359 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 69,921,280 | 69,976,359 | ||
nssv15776050 | Submitted genomic | NC_000014.8:g.(?_6 9921280)_(69976359 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 69,921,280 | 69,976,359 | ||
nssv15776725 | Submitted genomic | NC_000014.8:g.(?_6 9921280)_(69976359 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 69,921,280 | 69,976,359 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15776043 | GRCh37: NC_000014.8:g.(?_69921280)_(69976359_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848496.2, VCV000687805.2 | 3 |
nssv15776050 | GRCh37: NC_000014.8:g.(?_69921280)_(69976359_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848507.2, VCV000687816.2 | 3 |
nssv15776725 | GRCh37: NC_000014.8:g.(?_69921280)_(69976359_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849896.2, VCV000689205.2 | 3 |