nsv3883445
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,308
- Description:NC_000020.11:g.(?_10405227)_(10413534_?)del AND multiple conditions
- Publication(s):Forsythe et al. 2003, Slavotinek et al. 2002
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 76 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3883445 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 10,405,227 | 10,413,534 |
| nsv3883445 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 10,385,875 | 10,394,182 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15144823 | deletion | Multiple | Multiple | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome; MCKUSICK-KAUFMAN SYNDROME; MKKS; McKusick-Kaufman Syndrome; McKusick-Kaufman syndrome; McKusick-Kaufman syndrome | Pathogenic | ClinVar | RCV000708480.2, VCV000584330.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15144823 | Submitted genomic | NC_000020.11:g.(?_ 10405227)_(1041353 4_?)del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 10,405,227 | 10,413,534 |
| nssv15144823 | Submitted genomic | NC_000020.10:g.(?_ 10385875)_(1039418 2_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 10,385,875 | 10,394,182 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15144823 | GRCh37: NC_000020.10:g.(?_10385875)_(10394182_?)del, GRCh38: NC_000020.11:g.(?_10405227)_(10413534_?)del | deletion | germline | Bardet-Biedl syndrome; Bardet-Biedl syndrome; Bardet-Biedl syndrome; MCKUSICK-KAUFMAN SYNDROME; MKKS; McKusick-Kaufman Syndrome; McKusick-Kaufman syndrome; McKusick-Kaufman syndrome | Pathogenic | ClinVar | RCV000708480.2, VCV000584330.2 |