nsv4685972
- 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:6,422,927
- Description:GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) AND Harel-Yoon syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 27983 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 27980 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685972 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 826,700 | 7,249,626 |
| nsv4685972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 762,080 | 7,309,686 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216885 | copy number loss | Multiple | Multiple | HAREL-YOON SYNDROME; HAYOS; Harel-Yoon syndrome | Likely pathogenic | ClinVar | RCV001254115.2, VCV000976729.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216885 | Remapped | Good | NC_000001.11:g.(?_ 826700)_(7249626_? )del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 826,700 | 7,249,626 |
| nssv16216885 | Submitted genomic | NC_000001.10:g.(?_ 762080)_(7309686_? )del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 762,080 | 7,309,686 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216885 | GRCh37: NC_000001.10:g.(?_762080)_(7309686_?)del | copy number loss | germline | HAREL-YOON SYNDROME; HAYOS; Harel-Yoon syndrome | Likely pathogenic | ClinVar | RCV001254115.2, VCV000976729.2 |