nsv3920155
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:331,478
- Description:
GRCh38/hg38 8p23.2(chr8:2605460-2936937)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1744 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1523 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 740 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920155 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 2,605,460 | 2,936,937 |
| nsv3920155 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,498,609 | 2,794,459 |
| nsv3920155 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 2,337,312 | 2,781,866 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134036 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000136308.4, VCV000147087.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134036 | Submitted genomic | NC_000008.11:g.(?_ 2605460)_(2936937_ ?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 2,605,460 | 2,936,937 |
| nssv15134036 | Submitted genomic | NC_000008.10:g.(?_ 2498609)_(2794459_ ?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,498,609 | 2,794,459 |
| nssv15134036 | Submitted genomic | NC_000008.9:g.(?_2 337312)_(2781866_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,337,312 | 2,781,866 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134036 | GRCh37: NC_000008.10:g.(?_2498609)_(2794459_?)dup, GRCh38: NC_000008.11:g.(?_2605460)_(2936937_?)dup, NCBI36: NC_000008.9:g.(?_2337312)_(2781866_?)dup | copy number gain | tested-inconclusive | See cases | Uncertain significance | ClinVar | RCV000136308.4, VCV000147087.2 | 3 |