nsv3911039
- 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:2,786,333
- Description:GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)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: 8077 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 8072 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2384 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 |
|---|---|---|---|---|---|---|---|
| nsv3911039 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 35,772,177 | 38,558,509 |
| nsv3911039 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 37,144,475 | 39,930,433 |
| nsv3911039 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 36,066,345 | 38,852,303 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131821 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133619.5, VCV000144137.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131821 | Submitted genomic | NC_000021.9:g.(?_3 5772177)_(38558509 _?)del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 35,772,177 | 38,558,509 |
| nssv15131821 | Submitted genomic | NC_000021.8:g.(?_3 7144475)_(39930433 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 37,144,475 | 39,930,433 |
| nssv15131821 | Submitted genomic | NC_000021.7:g.(?_3 6066345)_(38852303 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 36,066,345 | 38,852,303 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131821 | GRCh37: NC_000021.8:g.(?_37144475)_(39930433_?)del, GRCh38: NC_000021.9:g.(?_35772177)_(38558509_?)del, NCBI36: NC_000021.7:g.(?_36066345)_(38852303_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133619.5, VCV000144137.2 | 1 |