nsv3919833
- 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:14,646,769
- Description:GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)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: 37276 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 37279 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 10409 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919833 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 158,141,556 | 172,788,324 |
| nsv3919833 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 157,859,345 | 172,506,114 |
| nsv3919833 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 159,342,039 | 173,988,808 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132154 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051735.4, VCV000057993.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132154 | Submitted genomic | NC_000003.12:g.(?_ 158141556)_(172788 324_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 158,141,556 | 172,788,324 |
| nssv15132154 | Submitted genomic | NC_000003.11:g.(?_ 157859345)_(172506 114_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 157,859,345 | 172,506,114 |
| nssv15132154 | Submitted genomic | NC_000003.10:g.(?_ 159342039)_(173988 808_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 159,342,039 | 173,988,808 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132154 | GRCh37: NC_000003.11:g.(?_157859345)_(172506114_?)dup, GRCh38: NC_000003.12:g.(?_158141556)_(172788324_?)dup, NCBI36: NC_000003.10:g.(?_159342039)_(173988808_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051735.4, VCV000057993.1 | 3 |