nsv3918088
- 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:680,496
- Description:GRCh38/hg38 3q22.1(chr3:129855684-130536179)x1 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: 2460 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 2462 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 955 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918088 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 129,855,684 | 130,536,179 |
| nsv3918088 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 129,574,527 | 130,255,023 |
| nsv3918088 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 131,057,217 | 131,737,713 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134613 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137900.4, VCV000148835.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134613 | Submitted genomic | NC_000003.12:g.(?_ 129855684)_(130536 179_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 129,855,684 | 130,536,179 |
| nssv15134613 | Submitted genomic | NC_000003.11:g.(?_ 129574527)_(130255 023_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 129,574,527 | 130,255,023 |
| nssv15134613 | Submitted genomic | NC_000003.10:g.(?_ 131057217)_(131737 713_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,057,217 | 131,737,713 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134613 | GRCh37: NC_000003.11:g.(?_129574527)_(130255023_?)del, GRCh38: NC_000003.12:g.(?_129855684)_(130536179_?)del, NCBI36: NC_000003.10:g.(?_131057217)_(131737713_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000137900.4, VCV000148835.2 | 1 |