nsv3887265
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:31,735
- Description:
See descriptions for individual calls in download files - Publication(s):Amendola et al. 2022, Gomez-Ospina et al. 2016, Knisely et al. 2001
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 120 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 120 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3887265 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 100,492,476 | 100,524,210 |
| nsv3887265 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 100,886,254 | 100,917,988 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15147576 | deletion | Multiple | Multiple | ATP8B1 Deficiency; CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1; Progressive familial intrahepatic cholestasis type 1; Progressive intrahepatic cholestasis | Pathogenic | ClinVar | RCV000240814.1, VCV000219163.2 |
| nssv18830881 | deletion | Multiple | Multiple | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5; Cholestasis, progressive familial intrahepatic, 5 | Pathogenic | ClinVar | RCV003231403.1, VCV000219163.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15147576 | Submitted genomic | NC_000012.12:g.100 492476_100524210de l | GRCh38 (hg38) | NC_000012.12 | Chr12 | 100,492,476 | 100,524,210 |
| nssv18830881 | Submitted genomic | NC_000012.12:g.100 492476_100524210de l | GRCh38 (hg38) | NC_000012.12 | Chr12 | 100,492,476 | 100,524,210 |
| nssv15147576 | Submitted genomic | NC_000012.11:g.100 886254_100917988de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 100,886,254 | 100,917,988 |
| nssv18830881 | Submitted genomic | NC_000012.11:g.100 886254_100917988de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 100,886,254 | 100,917,988 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15147576 | GRCh37: NC_000012.11:g.100886254_100917988del, GRCh38: NC_000012.12:g.100492476_100524210del | deletion | paternal | ATP8B1 Deficiency; CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1; Progressive familial intrahepatic cholestasis type 1; Progressive intrahepatic cholestasis | Pathogenic | ClinVar | RCV000240814.1, VCV000219163.2 |
| nssv18830881 | GRCh37: NC_000012.11:g.100886254_100917988del, GRCh38: NC_000012.12:g.100492476_100524210del | deletion | germline | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5; Cholestasis, progressive familial intrahepatic, 5 | Pathogenic | ClinVar | RCV003231403.1, VCV000219163.2 |