nsv4675786
- 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:302,123
- Description:GRCh37/hg19 8q13.1-13.2(chr8:67718713-68020835)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: 767 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 767 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675786 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 66,806,478 | 67,108,600 |
| nsv4675786 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 67,718,713 | 68,020,835 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206959 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006109.1, VCV000815132.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206959 | Remapped | Perfect | NC_000008.11:g.(?_ 66806478)_(6710860 0_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 66,806,478 | 67,108,600 |
| nssv16206959 | Submitted genomic | NC_000008.10:g.(?_ 67718713)_(6802083 5_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 67,718,713 | 68,020,835 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206959 | GRCh37: NC_000008.10:g.(?_67718713)_(68020835_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006109.1, VCV000815132.1 | 3 |