nsv3878595
- 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:3,759
- Description:
See descriptions for individual calls in download files - Publication(s):Camp et al. 2014, Chen et al. 2002, Regier et al. 2000, Vockley et al. 2013, Zschocke et al. 2011
- ClinGen: CA281520
- ClinVar: RCV000000670.11
- ClinVar: RCV001375892.8
- ClinVar: VCV000000638.4
- GeneReviews: NBK1504
- HP: 0004923
- MONDO: 0009861
- MedGen: C0031485
- MedGen: C0751435
- OMIM: 261600
- OMIM: 612349.0066
- Orphanet: 716
- PubMed: 11935335
- PubMed: 20301677
- PubMed: 21915151
- PubMed: 24385074
- PubMed: 24667081
- dbVar: nssv7487194
- dbVar: nsv1197550
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 78 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3878595 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 102,917,538 | 102,921,296 |
| nsv3878595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 103,311,316 | 103,315,074 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119635 | deletion | Multiple | Multiple | Hyperphenylalaninemia; Hyperphenylalaninemia, non-pku | Pathogenic | ClinVar | RCV000000670.11, VCV000000638.4 |
| nssv17059609 | deletion | Multiple | Multiple | PHENYLKETONURIA; PKU; Phenylalanine Hydroxylase Deficiency; Phenylketonuria; Phenylketonuria | Likely pathogenic | ClinVar | RCV001375892.8, VCV000000638.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15119635 | Submitted genomic | NC_000012.12:g.102 917538_102921296de l | GRCh38 (hg38) | NC_000012.12 | Chr12 | 102,917,538 | 102,921,296 |
| nssv17059609 | Submitted genomic | NC_000012.12:g.102 917538_102921296de l | GRCh38 (hg38) | NC_000012.12 | Chr12 | 102,917,538 | 102,921,296 |
| nssv15119635 | Submitted genomic | NC_000012.11:g.103 311316_103315074de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 103,311,316 | 103,315,074 |
| nssv17059609 | Submitted genomic | NC_000012.11:g.103 311316_103315074de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 103,311,316 | 103,315,074 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119635 | GRCh37: NC_000012.11:g.103311316_103315074del, GRCh38: NC_000012.12:g.102917538_102921296del | deletion | germline | Hyperphenylalaninemia; Hyperphenylalaninemia, non-pku | Pathogenic | ClinVar | RCV000000670.11, VCV000000638.4 |
| nssv17059609 | GRCh37: NC_000012.11:g.103311316_103315074del, GRCh38: NC_000012.12:g.102917538_102921296del | deletion | germline | PHENYLKETONURIA; PKU; Phenylalanine Hydroxylase Deficiency; Phenylketonuria; Phenylketonuria | Likely pathogenic | ClinVar | RCV001375892.8, VCV000000638.4 |