A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234400



Internal ID22373016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113419587..113450913hg38UCSC Ensembl
Outerchr13:114073902..114105228hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381897
hg191897
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257375, nssv14257378, nssv14257377, nssv14257376
SamplesHG00512, HG00731, HG00733, HG00514
Known GenesADPRHL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234400
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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