nsv3915155
- 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:87,931
- Description:GRCh38/hg38 22q11.21(chr22:18929329-19017259)x0 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: 1233 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1194 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 540 SVs from 23 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3915155 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 18,929,329 | 19,017,259 |
nsv3915155 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,916,842 | 19,004,772 |
nsv3915155 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 17,296,842 | 17,384,772 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15137726 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140456.5, VCV000151769.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15137726 | Submitted genomic | NC_000022.11:g.(?_ 18929329)_(1901725 9_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,929,329 | 19,017,259 |
nssv15137726 | Submitted genomic | NC_000022.10:g.(?_ 18916842)_(1900477 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,842 | 19,004,772 |
nssv15137726 | Submitted genomic | NC_000022.9:g.(?_1 7296842)_(17384772 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 17,296,842 | 17,384,772 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15137726 | GRCh37: NC_000022.10:g.(?_18916842)_(19004772_?)del, GRCh38: NC_000022.11:g.(?_18929329)_(19017259_?)del, NCBI36: NC_000022.9:g.(?_17296842)_(17384772_?)del | copy number loss | biparental | See cases | Pathogenic | ClinVar | RCV000140456.5, VCV000151769.2 | 0 |