A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219092



Internal ID22364223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:55382865..55393429hg38UCSC Ensembl
Outerchr17:53460226..53470790hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3810565
hg1910565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260777, nssv14260776
SamplesNA19239, NA19240
Known GenesMMD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219092
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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