A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279907



Internal ID22292494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143193282..143250012hg38UCSC Ensembl
Outerchr8:144274699..144332182hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383857
hg193857
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246660
Supporting Variants
SamplesNA19240
Known GenesGPIHBP1, ZFP41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279907
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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