A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14311346



Internal ID22269928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8239258..8239258hg38UCSC Ensembl
chr4:8240985..8240985hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563804
Supporting Variants
SamplesNA19239
Known GenesSH3TC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14311346
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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