nsv3919464
- 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:10,409,813
- Description:GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)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: 22216 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 22216 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 5762 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919464 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 114,122,562 | 124,532,374 |
| nsv3919464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 113,841,409 | 124,251,221 |
| nsv3919464 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 115,324,099 | 125,733,911 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138253 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142009.6, VCV000153722.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138253 | Submitted genomic | NC_000003.12:g.(?_ 114122562)_(124532 374_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 114,122,562 | 124,532,374 |
| nssv15138253 | Submitted genomic | NC_000003.11:g.(?_ 113841409)_(124251 221_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 113,841,409 | 124,251,221 |
| nssv15138253 | Submitted genomic | NC_000003.10:g.(?_ 115324099)_(125733 911_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 115,324,099 | 125,733,911 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138253 | GRCh37: NC_000003.11:g.(?_113841409)_(124251221_?)del, GRCh38: NC_000003.12:g.(?_114122562)_(124532374_?)del, NCBI36: NC_000003.10:g.(?_115324099)_(125733911_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142009.6, VCV000153722.2 | 1 |