A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323123



Internal ID22282910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66018446..66018500hg38UCSC Ensembl
chr5:65314274..65314328hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206461
Supporting Variants
SamplesNA19239
Known GenesERBB2IP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323123
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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