nsv3919904
- 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:781,618
- Description:GRCh38/hg38 8q12.1(chr8:56220544-57002161)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: 1959 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1959 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 496 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919904 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 56,220,544 | 57,002,161 |
| nsv3919904 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 57,133,103 | 57,914,720 |
| nsv3919904 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 57,295,657 | 58,077,274 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139676 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143778.5, VCV000155711.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139676 | Submitted genomic | NC_000008.11:g.(?_ 56220544)_(5700216 1_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 56,220,544 | 57,002,161 |
| nssv15139676 | Submitted genomic | NC_000008.10:g.(?_ 57133103)_(5791472 0_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 57,133,103 | 57,914,720 |
| nssv15139676 | Submitted genomic | NC_000008.9:g.(?_5 7295657)_(58077274 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 57,295,657 | 58,077,274 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139676 | GRCh37: NC_000008.10:g.(?_57133103)_(57914720_?)dup, GRCh38: NC_000008.11:g.(?_56220544)_(57002161_?)dup, NCBI36: NC_000008.9:g.(?_57295657)_(58077274_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000143778.5, VCV000155711.2 | 3 |