A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193164



Internal ID22343645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:64968859..65009533hg38UCSC Ensembl
Outerchr6:65678752..65719426hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3840675
hg1940675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276705
SamplesHG00512
Known GenesEYS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193164
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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