A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225644



Internal ID22368712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88076234..88085769hg38UCSC Ensembl
Outerchr16:88109840..88119375hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg389536
hg199536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259316, nssv14259319, nssv14259315, nssv14259318, nssv14259317, nssv14259320
SamplesHG00512, NA19238, NA19239, HG00732, HG00513, HG00514
Known GenesBANP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225644
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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