A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276573



Internal ID22260721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51976560..51990259hg38UCSC Ensembl
Outerchr6:51841358..51855057hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381572
hg191572
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228686
Supporting Variants
SamplesNA19238
Known GenesPKHD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276573
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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