A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236360



Internal ID22373557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40818133..40821570hg38UCSC Ensembl
Outerchr8:40675652..40679089hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279804, nssv14279807, nssv14279810, nssv14279808, nssv14279802, nssv14279803, nssv14279805, nssv14279809, nssv14279806
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesZMAT4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236360
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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