nsv6291566
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:773,792
- Description:GRCh37/hg19 14q32.31-32.32(chr14:102871245-103645036)x4 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: 2732 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2732 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6291566 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 102,404,908 | 103,178,699 |
nsv6291566 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 102,871,245 | 103,645,036 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv17957341 | copy number gain | Multiple | Multiple | not provided | not provided | ClinVar | RCV001825177.1, VCV001339794.1 | 4 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17957341 | Remapped | Perfect | NC_000014.9:g.(?_1 02404908)_(1031786 99_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 102,404,908 | 103,178,699 |
nssv17957341 | Submitted genomic | NC_000014.8:g.(?_1 02871245)_(1036450 36_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 102,871,245 | 103,645,036 |
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 |
---|---|---|---|---|---|---|---|---|
nssv17957341 | GRCh37: NC_000014.8:g.(?_102871245)_(103645036_?)dup | copy number gain | unknown | not provided | not provided | ClinVar | RCV001825177.1, VCV001339794.1 | 4 |