nsv3922128
- 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:3,566,185
- Description:GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)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: 11107 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 11112 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 2768 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922128 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 35,333,993 | 38,900,177 |
| nsv3922128 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 35,729,986 | 39,296,182 |
| nsv3922128 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 34,059,986 | 37,626,128 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145692 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051364.5, VCV000057629.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145692 | Submitted genomic | NC_000022.11:g.(?_ 35333993)_(3890017 7_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 35,333,993 | 38,900,177 |
| nssv15145692 | Submitted genomic | NC_000022.10:g.(?_ 35729986)_(3929618 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 35,729,986 | 39,296,182 |
| nssv15145692 | Submitted genomic | NC_000022.9:g.(?_3 4059986)_(37626128 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 34,059,986 | 37,626,128 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145692 | GRCh37: NC_000022.10:g.(?_35729986)_(39296182_?)del, GRCh38: NC_000022.11:g.(?_35333993)_(38900177_?)del, NCBI36: NC_000022.9:g.(?_34059986)_(37626128_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051364.5, VCV000057629.1 | 1 |