nsv6311469
- 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:16,271
- Description:NC_000002.11:g.(?_175612852)_(175629122_?)del AND Lethal multiple pterygium syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 170 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 26 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6311469 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,748,124 | 174,764,394 |
nsv6311469 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 175,612,852 | 175,629,122 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17971895 | deletion | Multiple | Multiple | Lethal multiple pterygium syndrome; Lethal multiple pterygium syndrome; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS | Pathogenic | ClinVar | RCV001960680.2, VCV001454489.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17971895 | Remapped | Perfect | NC_000002.12:g.(?_ 174748124)_(174764 394_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,748,124 | 174,764,394 |
nssv17971895 | Submitted genomic | NC_000002.11:g.(?_ 175612852)_(175629 122_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 175,612,852 | 175,629,122 |
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 |
---|---|---|---|---|---|---|---|
nssv17971895 | GRCh37: NC_000002.11:g.(?_175612852)_(175629122_?)del | deletion | germline | Lethal multiple pterygium syndrome; Lethal multiple pterygium syndrome; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS | Pathogenic | ClinVar | RCV001960680.2, VCV001454489.2 |