nsv5381491
- 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:1,196,501
- Description:GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592) 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: 3300 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 3456 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381491 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 96,089,297 | 97,285,797 |
| nsv5381491 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 96,755,045 | 98,021,592 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867406 | copy number loss | Multiple | Multiple | Cleft lip; Cleft lip; Fetal growth restriction; Intrauterine growth retardation | Pathogenic | ClinVar | RCV001352673.1, VCV001047904.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867406 | Remapped | Pass | NC_000002.12:g.(?_ 96089297)_(9728579 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 96,089,297 | 97,285,797 |
| nssv16867406 | Submitted genomic | NC_000002.11:g.(?_ 96755045)_(9802159 2_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 96,755,045 | 98,021,592 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867406 | GRCh37: NC_000002.11:g.(?_96755045)_(98021592_?)del | copy number loss | paternal | Cleft lip; Cleft lip; Fetal growth restriction; Intrauterine growth retardation | Pathogenic | ClinVar | RCV001352673.1, VCV001047904.1 |