nsv3871638
- 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:30,332
- Description:
See descriptions for individual calls in download files - Publication(s):Jacquet et al. 2002
- ClinVar: RCV000004212.3
- ClinVar: RCV000004213.3
- ClinVar: VCV000004005.1
- MONDO: 0009400
- MONDO: 0010943
- MedGen: C0268529
- MedGen: C1833247
- OMIM: 239500
- OMIM: 600850
- OMIM: 606810.0001
- OMIM: 606810.0002
- OMIM: 606810.0003
- OMIM: 606810.0004
- OMIM: 606810.0005
- OMIM: 606810.0006
- OMIM: 606810.0007
- OMIM: 606810.0009
- Orphanet: 419
- PubMed: 12217952
- dbVar: nssv7487156
- dbVar: nsv1197561
- 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: 912 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 856 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3871638 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 18,906,222 | 18,936,553 |
| nsv3871638 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,893,735 | 18,924,066 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119655 | deletion | Multiple | Multiple | HYPERPROLINEMIA, TYPE I; HYRPRO1; Hyperprolinemia type 1; Proline dehydrogenase deficiency | Pathogenic | ClinVar | RCV000004212.3, VCV000004005.1 |
| nssv15119656 | deletion | Multiple | Multiple | SCHIZOPHRENIA 4; SCZD4; Schizophrenia 4; See individual phenotypes in OMIM allelic variants | risk factor | ClinVar | RCV000004213.3, VCV000004005.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119655 | Submitted genomic | NC_000022.11:g.(?_ 18906222)_(1893655 3_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,906,222 | 18,936,553 |
| nssv15119656 | Submitted genomic | NC_000022.11:g.(?_ 18906222)_(1893655 3_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 18,906,222 | 18,936,553 |
| nssv15119655 | Submitted genomic | NC_000022.10:g.(?_ 18893735)_(1892406 6_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,893,735 | 18,924,066 |
| nssv15119656 | Submitted genomic | NC_000022.10:g.(?_ 18893735)_(1892406 6_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,893,735 | 18,924,066 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15119655 | GRCh37: NC_000022.10:g.(?_18893735)_(18924066_?)del, GRCh38: NC_000022.11:g.(?_18906222)_(18936553_?)del | deletion | germline | HYPERPROLINEMIA, TYPE I; HYRPRO1; Hyperprolinemia type 1; Proline dehydrogenase deficiency | Pathogenic | ClinVar | RCV000004212.3, VCV000004005.1 |
| nssv15119656 | GRCh37: NC_000022.10:g.(?_18893735)_(18924066_?)del, GRCh38: NC_000022.11:g.(?_18906222)_(18936553_?)del | deletion | germline | SCHIZOPHRENIA 4; SCZD4; Schizophrenia 4; See individual phenotypes in OMIM allelic variants | risk factor | ClinVar | RCV000004213.3, VCV000004005.1 |