nsv3891817
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,722,759
- Description:GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)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: 25430 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 25443 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 7193 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3891817 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 34,155,652 | 42,878,410 |
| nsv3891817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 35,527,952 | 44,298,520 | ||
| nsv3891817 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 34,449,822 | 43,171,589 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145768 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052807.4, VCV000059013.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15145768 | Remapped | Good | NC_000021.9:g.(?_3 4155652)_(42878410 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 34,155,652 | 42,878,410 |
| nssv15145768 | Submitted genomic | NC_000021.8:g.(?_3 5527952)_(44298520 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 35,527,952 | 44,298,520 | ||
| nssv15145768 | Submitted genomic | NC_000021.7:g.(?_3 4449822)_(43171589 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 34,449,822 | 43,171,589 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145768 | GRCh37: NC_000021.8:g.(?_35527952)_(44298520_?)del, NCBI36: NC_000021.7:g.(?_34449822)_(43171589_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052807.4, VCV000059013.1 | 1 |