A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220194



Internal ID22364967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60500240..60507073hg38UCSC Ensembl
Outerchr17:58577601..58584434hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg386834
hg196834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260788, nssv14260789
SamplesNA19239, NA19240
Known GenesAPPBP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220194
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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