nsv4454705
- 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:2,595,176
- Description:GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1 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: 7799 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 7815 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4454705 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 10,186,582 | 12,781,757 |
| nsv4454705 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 10,246,640 | 12,841,900 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772034 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846372.2, VCV000685664.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772034 | Remapped | Good | NC_000001.11:g.(?_ 10186582)_(1278175 7_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 10,186,582 | 12,781,757 |
| nssv15772034 | Submitted genomic | NC_000001.10:g.(?_ 10246640)_(1284190 0_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 10,246,640 | 12,841,900 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772034 | GRCh37: NC_000001.10:g.(?_10246640)_(12841900_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000846372.2, VCV000685664.2 | 1 |