A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313957



Internal ID22269326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48904706..48906982hg38UCSC Ensembl
chr4:48906723..48908999hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg382277
hg192277
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193566
Supporting Variants
SamplesNA19238
Known GenesOCIAD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313957
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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