nsv3911894
- 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:185,980
- Description:GRCh38/hg38 21q22.12(chr21:34507402-34693381)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: 539 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 542 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911894 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 34,507,402 | 34,693,381 |
| nsv3911894 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 35,879,700 | 36,065,680 |
| nsv3911894 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 34,801,570 | 34,987,550 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139073 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000142801.4, VCV000154734.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139073 | Submitted genomic | NC_000021.9:g.(?_3 4507402)_(34693381 _?)del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 34,507,402 | 34,693,381 |
| nssv15139073 | Submitted genomic | NC_000021.8:g.(?_3 5879700)_(36065680 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 35,879,700 | 36,065,680 |
| nssv15139073 | Submitted genomic | NC_000021.7:g.(?_3 4801570)_(34987550 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 34,801,570 | 34,987,550 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139073 | GRCh37: NC_000021.8:g.(?_35879700)_(36065680_?)del, GRCh38: NC_000021.9:g.(?_34507402)_(34693381_?)del, NCBI36: NC_000021.7:g.(?_34801570)_(34987550_?)del | copy number loss | maternal | See cases | Uncertain significance | ClinVar | RCV000142801.4, VCV000154734.2 | 1 |