nsv3920193
- 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:6,022,996
- Description:GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)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: 13971 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 13962 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 4004 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920193 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 67,391,006 | 73,414,001 |
| nsv3920193 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 67,441,430 | 73,463,152 |
| nsv3920193 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 67,524,120 | 73,545,842 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133062 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133821.4, VCV000144339.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133062 | Submitted genomic | NC_000003.12:g.(?_ 67391006)_(7341400 1_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 67,391,006 | 73,414,001 |
| nssv15133062 | Submitted genomic | NC_000003.11:g.(?_ 67441430)_(7346315 2_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 67,441,430 | 73,463,152 |
| nssv15133062 | Submitted genomic | NC_000003.10:g.(?_ 67524120)_(7354584 2_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 67,524,120 | 73,545,842 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133062 | GRCh37: NC_000003.11:g.(?_67441430)_(73463152_?)del, GRCh38: NC_000003.12:g.(?_67391006)_(73414001_?)del, NCBI36: NC_000003.10:g.(?_67524120)_(73545842_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133821.4, VCV000144339.2 | 1 |