nsv3910200
- 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:6,494,230
- Description:GRCh38/hg38 3q23-24(chr3:141751960-148246189)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: 16111 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 16126 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 4343 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910200 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 141,751,960 | 148,246,189 |
| nsv3910200 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 141,470,802 | 147,963,976 |
| nsv3910200 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 142,953,492 | 149,446,666 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132144 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051575.5, VCV000057835.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132144 | Submitted genomic | NC_000003.12:g.(?_ 141751960)_(148246 189_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 141,751,960 | 148,246,189 |
| nssv15132144 | Submitted genomic | NC_000003.11:g.(?_ 141470802)_(147963 976_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 141,470,802 | 147,963,976 |
| nssv15132144 | Submitted genomic | NC_000003.10:g.(?_ 142953492)_(149446 666_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 142,953,492 | 149,446,666 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132144 | GRCh37: NC_000003.11:g.(?_141470802)_(147963976_?)del, GRCh38: NC_000003.12:g.(?_141751960)_(148246189_?)del, NCBI36: NC_000003.10:g.(?_142953492)_(149446666_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051575.5, VCV000057835.1 | 1 |