A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185055



Internal ID21323858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73289719..73289719hg38UCSC Ensembl
chr17:71285858..71285858hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3949083
Supporting Variants
SamplesHG002
Known GenesCDC42EP4
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185055
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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