A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14315792



Internal ID22306715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83059808..83060295hg38UCSC Ensembl
chr4:83980961..83981448hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197052
Supporting Variants
SamplesNA19240
Known GenesCOPS4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14315792
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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