nsv4769276
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:21,901
- Description:PI NULL(RIEDENBURG) AND PI NULL(RIEDENBURG)
- Publication(s):Hofker et al. 1988, Poller et al. 1991
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 102 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv4769276 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 94,366,703 | 94,376,746 | 94,388,603 | ||
| nsv4769276 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 94,833,040 | 94,843,083 | 94,854,940 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16297009 | deletion | Multiple | Multiple | See individual phenotypes in OMIM allelic variants | other | ClinVar | RCV000019603.3, VCV000017988.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv16297009 | Submitted genomic | NC_000014.9:g.(943 66703_94376746)_(9 4388603_?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 94,366,703 | 94,376,746 | 94,388,603 | ||
| nssv16297009 | Remapped | Perfect | NC_000014.8:g.(948 33040_94843083)_(9 4854940_?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 94,833,040 | 94,843,083 | 94,854,940 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16297009 | GRCh38: NC_000014.9:g.(94366703_94376746)_(94388603_?)del | deletion | germline | See individual phenotypes in OMIM allelic variants | other | ClinVar | RCV000019603.3, VCV000017988.2 |