nsv6289901
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:12,158
- Description:NC_000005.9:g.44300489_44312646del AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 69 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 69 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289901 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 44,300,387 | 44,312,544 |
| nsv6289901 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 44,300,489 | 44,312,646 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955597 | deletion | Multiple | Multiple | LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; Lacrimoauriculodentodigital syndrome; Lacrimoauriculodentodigital syndrome; Levy-Hollister syndrome; PULMONARY HYPOPLASIA, PRIMARY; Primary pulmonary hypoplasia | Pathogenic | ClinVar | RCV001726492.1, VCV001064421.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955597 | Remapped | Perfect | NC_000005.10:g.443 00387_44312544del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 44,300,387 | 44,312,544 |
| nssv17955597 | Submitted genomic | NC_000005.9:g.4430 0489_44312646del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 44,300,489 | 44,312,646 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955597 | GRCh37: NC_000005.9:g.44300489_44312646del | deletion | maternal | LACRIMOAURICULODENTODIGITAL SYNDROME; LADD; Lacrimoauriculodentodigital syndrome; Lacrimoauriculodentodigital syndrome; Levy-Hollister syndrome; PULMONARY HYPOPLASIA, PRIMARY; Primary pulmonary hypoplasia | Pathogenic | ClinVar | RCV001726492.1, VCV001064421.1 |