nsv4768309
- 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:11,171
- Description:NM_000277.1(PAH):c.913_1199del (p.Ile306Leufs) AND Phenylketonuria
- Publication(s):Camp et al. 2014, Regier et al. 2000, Vockley et al. 2013, Zschocke et al. 1999, Zschocke et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 125 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4768309 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 102,840,516 | 102,843,645 | 102,846,952 | 102,851,686 | ||
| nsv4768309 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 103,234,294 | 103,237,423 | 103,240,730 | 103,245,464 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16296925 | deletion | Multiple | Multiple | PHENYLKETONURIA; PKU; Phenylalanine Hydroxylase Deficiency; Phenylketonuria; Phenylketonuria | Pathogenic | ClinVar | RCV000000669.57, VCV000000637.60 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv16296925 | Submitted genomic | NC_000012.12:g.(10 2840516_102843645) _(102846952_102851 686)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 102,840,516 | 102,843,645 | 102,846,952 | 102,851,686 | ||
| nssv16296925 | Remapped | Perfect | NC_000012.11:g.(10 3234294_103237423) _(103240730_103245 464)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 103,234,294 | 103,237,423 | 103,240,730 | 103,245,464 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16296925 | GRCh38: NC_000012.12:g.(102840516_102843645)_(102846952_102851686)del | deletion | see ClinVar for details | PHENYLKETONURIA; PKU; Phenylalanine Hydroxylase Deficiency; Phenylketonuria; Phenylketonuria | Pathogenic | ClinVar | RCV000000669.57, VCV000000637.60 |