nsv6314805
- 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:4,597
- Description:
NM_173630.4(RTTN):c.4375-3963_4564+444del AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 195 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 31 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv6314805 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 70,074,908 | 70,079,504 |
nsv6314805 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 67,742,144 | 67,746,740 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18830796 | deletion | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV003313801.6, VCV001684632.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv18830796 | Submitted genomic | NC_000018.10:g.700 74908_70079504del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 70,074,908 | 70,079,504 |
nssv18830796 | Submitted genomic | NC_000018.9:g.6774 2144_67746740del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 67,742,144 | 67,746,740 |
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 |
---|---|---|---|---|---|---|---|
nssv18830796 | GRCh37: NC_000018.9:g.67742144_67746740del, GRCh38: NC_000018.10:g.70074908_70079504del | deletion | germline | See cases | Likely pathogenic | ClinVar | RCV003313801.6, VCV001684632.3 |