A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231402



Internal ID22372220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:40172285..40236574hg38UCSC Ensembl
Outerchr13:40746422..40810711hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381752
hg191752
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256664, nssv14256662, nssv14256661, nssv14256665, nssv14256666, nssv14256668, nssv14256667, nssv14256669, nssv14256663
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00332, LINC00548
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231402
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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