nsv6636181
- 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:80
- Description:NM_018928.3(PCDHGC4):c.683_762del (p.Leu228fs) AND Neurodevelopmental disorder with poor growth and skeletal anomalies
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 66 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6636181 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 141,485,851 | 141,485,930 |
| nsv6636181 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 140,865,418 | 140,865,497 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18330686 | deletion | Multiple | Multiple | NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES; NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES; NEDGS | Likely pathogenic | ClinVar | RCV002465045.3, VCV001802232.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18330686 | Submitted genomic | NC_000005.10:g.141 485851_141485930de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 141,485,851 | 141,485,930 |
| nssv18330686 | Submitted genomic | NC_000005.9:g.1408 65418_140865497del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 140,865,418 | 140,865,497 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18330686 | GRCh37: NC_000005.9:g.140865418_140865497del, GRCh38: NC_000005.10:g.141485851_141485930del | deletion | unknown | NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES; NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES; NEDGS | Likely pathogenic | ClinVar | RCV002465045.3, VCV001802232.3 |