A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313007



Internal ID22319821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40233406..40235439hg38UCSC Ensembl
chr4:40235026..40237059hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382034
hg192034
Variant TypeOTHER complex substitution
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519865
Supporting Variants
SamplesNA19240
Known GenesRHOH
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Commentscomplex variant
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313007
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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