nsv4451377
- 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:444,346
- Description:GRCh37/hg19 1q44(chr1:246821058-247265403)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: 2170 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2171 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451377 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 246,657,756 | 247,102,101 |
| nsv4451377 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 246,821,058 | 247,265,403 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772171 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846871.2, VCV000686163.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772171 | Remapped | Perfect | NC_000001.11:g.(?_ 246657756)_(247102 101_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 246,657,756 | 247,102,101 |
| nssv15772171 | Submitted genomic | NC_000001.10:g.(?_ 246821058)_(247265 403_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 246,821,058 | 247,265,403 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772171 | GRCh37: NC_000001.10:g.(?_246821058)_(247265403_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846871.2, VCV000686163.2 | 3 |