A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273631



Internal ID22133145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:163426474..163455257hg38UCSC Ensembl
Outerchr5:162853480..162882263hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3828784
hg1928784
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206308
Supporting Variants
SamplesHG00513
Known GenesCCNG1, NUDCD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273631
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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