nsv7097363
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,036,240
- Description:
See descriptions for individual calls in download files - Publication(s):Biancheri et al. 2008, Zariwala et al. 2007
- ClinVar: RCV003107317.3
- ClinVar: RCV003122554.3
- ClinVar: VCV002424085.9
- GeneReviews: NBK2587
- HP: 0012265
- MONDO: 0012514
- MONDO: 0016575
- MedGen: C0008780
- MedGen: C1864663
- OMIM: 610531.0001
- OMIM: 610531.0002
- OMIM: 610531.0003
- OMIM: 610531.0004
- OMIM: 610532
- OMIM: PS244400
- Orphanet: 85163
- PubMed: 20301301
- PubMed: 20301737
- 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: 4915 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 4916 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097363 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 20,954,872 | 22,991,111 |
| nsv7097363 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 20,994,491 | 23,030,730 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787556 | deletion | Multiple | Multiple | Hypomyelination and Congenital Cataract; Hypomyelination and Congenital Cataract; Hypomyelination-congenital cataract syndrome; LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003122554.3, VCV002424085.9 |
| nssv18791878 | deletion | Multiple | Multiple | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV003107317.3, VCV002424085.9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787556 | Remapped | Perfect | NC_000007.14:g.(?_ 20954872)_(2299111 1_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 20,954,872 | 22,991,111 |
| nssv18791878 | Remapped | Perfect | NC_000007.14:g.(?_ 20954872)_(2299111 1_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 20,954,872 | 22,991,111 |
| nssv18787556 | Submitted genomic | NC_000007.13:g.(?_ 20994491)_(2303073 0_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 20,994,491 | 23,030,730 | ||
| nssv18791878 | Submitted genomic | NC_000007.13:g.(?_ 20994491)_(2303073 0_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 20,994,491 | 23,030,730 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787556 | GRCh37: NC_000007.13:g.(?_20994491)_(23030730_?)del | deletion | germline | Hypomyelination and Congenital Cataract; Hypomyelination and Congenital Cataract; Hypomyelination-congenital cataract syndrome; LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003122554.3, VCV002424085.9 |
| nssv18791878 | GRCh37: NC_000007.13:g.(?_20994491)_(23030730_?)del | deletion | germline | Ciliary dyskinesia; Primary ciliary dyskinesia; Primary ciliary dyskinesia | Pathogenic | ClinVar | RCV003107317.3, VCV002424085.9 |