A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15196330



Internal ID21335126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69515446..69515524hg38UCSC Ensembl
chr5:68811273..68811351hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3940822
Supporting Variants
SamplesHG002
Known GenesOCLN
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15196330
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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