nsv3905007
- 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:502,880
- Description:GRCh37/hg19 10p11.23(chr10:29849273-30352152)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: 1432 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1432 SVs from 68 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3905007 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 29,560,344 | 30,063,223 |
nsv3905007 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 29,849,273 | 30,352,152 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15141984 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000510777.2, VCV000443114.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15141984 | Remapped | Perfect | NC_000010.11:g.(?_ 29560344)_(3006322 3_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 29,560,344 | 30,063,223 |
nssv15141984 | Submitted genomic | NC_000010.10:g.(?_ 29849273)_(3035215 2_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 29,849,273 | 30,352,152 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15141984 | GRCh37: NC_000010.10:g.(?_29849273)_(30352152_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000510777.2, VCV000443114.2 | 3 |