A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274820



Internal ID22198359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51829606..51874891hg38UCSC Ensembl
Outerchr6:51694404..51739689hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3845286
hg1945286
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210187
Supporting Variants
SamplesHG00732
Known GenesPKHD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274820
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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