nsv5381779
- 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:2,985,845
- Description:GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005) 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: 7219 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 7221 SVs from 93 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5381779 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 154,987,129 | 157,972,973 |
nsv5381779 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 155,308,263 | 158,394,005 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16867383 | copy number loss | Multiple | Multiple | Agenesis of corpus callosum; CORPUS CALLOSUM, AGENESIS OF; Cleft lip; Cleft lip; Corpus callosum, agenesis of; Ectopic scrotum; Ectopic scrotum; Isolated corpus callosum agenesis; Neurodevelopmental delay; Neurodevelopmental delay | Pathogenic | ClinVar | RCV001352651.1, VCV001047882.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16867383 | Remapped | Good | NC_000006.12:g.(?_ 154987129)_(157972 973_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 154,987,129 | 157,972,973 |
nssv16867383 | Submitted genomic | NC_000006.11:g.(?_ 155308263)_(158394 005_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 155,308,263 | 158,394,005 |
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 |
---|---|---|---|---|---|---|---|
nssv16867383 | GRCh37: NC_000006.11:g.(?_155308263)_(158394005_?)del | copy number loss | de novo | Agenesis of corpus callosum; CORPUS CALLOSUM, AGENESIS OF; Cleft lip; Cleft lip; Corpus callosum, agenesis of; Ectopic scrotum; Ectopic scrotum; Isolated corpus callosum agenesis; Neurodevelopmental delay; Neurodevelopmental delay | Pathogenic | ClinVar | RCV001352651.1, VCV001047882.1 |