A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198992



Internal ID22348646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:33402316..33402431hg38UCSC Ensembl
chr4:33403938..33404053hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14314130, nssv14314131, nssv14314132
SamplesNA19238, NA19239, HG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198992
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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