A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197052



Internal ID22346976
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14315792
SamplesNA19240
Known GenesCOPS4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197052
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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