A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14315777



Internal ID22137671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82861906..82862196hg38UCSC Ensembl
chr4:83783059..83783349hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206933
Supporting Variants
SamplesHG00513
Known GenesSEC31A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14315777
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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