A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228391



Internal ID22370588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:51545455..51550530hg38UCSC Ensembl
Outerchr17:49622816..49627891hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg385076
hg195076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260971, nssv14260970, nssv14260969, nssv14260972
SamplesHG00512, NA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228391
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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