nsv3918871
- 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:8,603,755
- Description:GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)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: 18542 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 18542 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 4843 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918871 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 130,401,265 | 139,005,019 |
| nsv3918871 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 130,120,109 | 138,723,861 |
| nsv3918871 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 131,602,799 | 140,206,551 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147429 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139240.4, VCV000150380.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147429 | Submitted genomic | NC_000003.12:g.(?_ 130401265)_(139005 019_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 130,401,265 | 139,005,019 |
| nssv15147429 | Submitted genomic | NC_000003.11:g.(?_ 130120109)_(138723 861_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 130,120,109 | 138,723,861 |
| nssv15147429 | Submitted genomic | NC_000003.10:g.(?_ 131602799)_(140206 551_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,602,799 | 140,206,551 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147429 | GRCh37: NC_000003.11:g.(?_130120109)_(138723861_?)del, GRCh38: NC_000003.12:g.(?_130401265)_(139005019_?)del, NCBI36: NC_000003.10:g.(?_131602799)_(140206551_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139240.4, VCV000150380.2 | 1 |