A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206308



Internal ID22354866
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273632, nssv14273631
SamplesHG00513, HG00514
Known GenesCCNG1, NUDCD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206308
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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