nsv6637046
- 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:1,900,178
- Description:GRCh37/hg19 1p32.2-32.1(chr1:57137390-59037566)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: 3883 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3883 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637046 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 56,671,717 | 58,571,894 |
| nsv6637046 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 57,137,390 | 59,037,566 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18328860 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474846.1, VCV001809001.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18328860 | Remapped | Perfect | NC_000001.11:g.(?_ 56671717)_(5857189 4_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 56,671,717 | 58,571,894 |
| nssv18328860 | Submitted genomic | NC_000001.10:g.(?_ 57137390)_(5903756 6_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 57,137,390 | 59,037,566 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18328860 | GRCh37: NC_000001.10:g.(?_57137390)_(59037566_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002474846.1, VCV001809001.1 | 3 |