nsv4676320
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:232,163
- Description:GRCh37/hg19 21q22.3(chr21:44736485-44968648)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 998 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1011 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676320 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 43,316,605 | 43,548,767 |
| nsv4676320 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 44,736,485 | 44,968,648 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207452 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007142.1, VCV000816176.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207452 | Remapped | Perfect | NC_000021.9:g.(?_4 3316605)_(43548767 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 43,316,605 | 43,548,767 |
| nssv16207452 | Submitted genomic | NC_000021.8:g.(?_4 4736485)_(44968648 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 44,736,485 | 44,968,648 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207452 | GRCh37: NC_000021.8:g.(?_44736485)_(44968648_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001007142.1, VCV000816176.1 | 3 |