nsv3910364
- 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:1,237,025
- Description:GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)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: 3346 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3333 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1023 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910364 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 37,408,770 | 38,645,794 |
| nsv3910364 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 38,781,072 | 40,017,718 |
| nsv3910364 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 37,702,942 | 38,939,588 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121162 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052837.4, VCV000059041.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121162 | Submitted genomic | NC_000021.9:g.(?_3 7408770)_(38645794 _?)del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 37,408,770 | 38,645,794 |
| nssv15121162 | Submitted genomic | NC_000021.8:g.(?_3 8781072)_(40017718 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 38,781,072 | 40,017,718 |
| nssv15121162 | Submitted genomic | NC_000021.7:g.(?_3 7702942)_(38939588 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 37,702,942 | 38,939,588 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121162 | GRCh37: NC_000021.8:g.(?_38781072)_(40017718_?)del, GRCh38: NC_000021.9:g.(?_37408770)_(38645794_?)del, NCBI36: NC_000021.7:g.(?_37702942)_(38939588_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052837.4, VCV000059041.1 | 1 |