A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252642



Internal ID22262788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71681602..71691809hg38UCSC Ensembl
Outerchr10:73441359..73451566hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38956
hg19956
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230692
Supporting Variants
SamplesNA19238
Known GenesCDH23
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252642
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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