nsv4674634
- 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:256,234
- Description:GRCh37/hg19 1p36.22(chr1:11419867-11676100)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: 833 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 833 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674634 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 11,359,810 | 11,616,043 |
| nsv4674634 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 11,419,867 | 11,676,100 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206471 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005068.1, VCV000814056.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206471 | Remapped | Perfect | NC_000001.11:g.(?_ 11359810)_(1161604 3_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 11,359,810 | 11,616,043 |
| nssv16206471 | Submitted genomic | NC_000001.10:g.(?_ 11419867)_(1167610 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 11,419,867 | 11,676,100 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206471 | GRCh37: NC_000001.10:g.(?_11419867)_(11676100_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005068.1, VCV000814056.1 | 3 |