nsv3919563
- 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:920,460
- Description:GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1 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: 3333 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3582 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 888 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919563 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 41,645,339 | 42,565,798 |
| nsv3919563 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,041,343 | 42,961,804 |
| nsv3919563 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 40,371,289 | 41,291,748 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145832 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000136528.5, VCV000147321.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145832 | Submitted genomic | NC_000022.11:g.(?_ 41645339)_(4256579 8_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 41,645,339 | 42,565,798 |
| nssv15145832 | Submitted genomic | NC_000022.10:g.(?_ 42041343)_(4296180 4_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,041,343 | 42,961,804 |
| nssv15145832 | Submitted genomic | NC_000022.9:g.(?_4 0371289)_(41291748 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 40,371,289 | 41,291,748 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145832 | GRCh37: NC_000022.10:g.(?_42041343)_(42961804_?)del, GRCh38: NC_000022.11:g.(?_41645339)_(42565798_?)del, NCBI36: NC_000022.9:g.(?_40371289)_(41291748_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000136528.5, VCV000147321.2 | 1 |