nsv6638068
- 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:20,507,089
- Description:GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 AND Orofacial cleft 2
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 48581 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 48596 SVs from 132 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 | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6638068 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 208,430,918 | 228,006,998 | 228,061,271 | 228,938,006 | ||
nsv6638068 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 208,604,263 | 208,604,263 | 229,073,753 | 229,073,753 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18329414 | copy number loss | Multiple | Multiple | OROFACIAL CLEFT 2; OFC2; Orofacial Cleft 2; Orofacial cleft 2 | association | ClinVar | RCV002481175.1, VCV001809607.1 | 2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv18329414 | Submitted genomic | NC_000001.11:g.(20 8430918_228006998) _(228061271_228938 006)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 208,430,918 | 228,006,998 | 228,061,271 | 228,938,006 | ||
nssv18329414 | Remapped | Good | NC_000001.10:g.(20 8604263_208604263) _(229073753_229073 753)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 208,604,263 | 208,604,263 | 229,073,753 | 229,073,753 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18329414 | GRCh38: NC_000001.11:g.(208430918_228006998)_(228061271_228938006)del | copy number loss | unknown | OROFACIAL CLEFT 2; OFC2; Orofacial Cleft 2; Orofacial cleft 2 | association | ClinVar | RCV002481175.1, VCV001809607.1 | 2 |