nsv4350159
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,198,806
- Description:GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349) AND Multiple endocrine neoplasia type 4
- Publication(s):No authors et al. 2021, No authors et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11218 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 11263 SVs from 121 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350159 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 10,183,610 | 13,382,415 |
| nsv4350159 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 10,336,209 | 13,535,349 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605815 | copy number loss | Multiple | Multiple | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4; Multiple endocrine neoplasia, type 4; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000767604.1, VCV000625596.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605815 | Remapped | Good | NC_000012.12:g.(?_ 10183610)_(1338241 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,183,610 | 13,382,415 |
| nssv15605815 | Submitted genomic | NC_000012.11:g.(?_ 10336209)_(1353534 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 10,336,209 | 13,535,349 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605815 | GRCh37: NC_000012.11:g.(?_10336209)_(13535349_?)del | copy number loss | germline | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV; MEN4; Multiple endocrine neoplasia, type 4; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000767604.1, VCV000625596.1 |