A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235964



Internal ID22373451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113871535..113906639hg38UCSC Ensembl
Outerchr13:114574508..114609612hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2513n152
Supporting Variantsnssv14257489, nssv14257488
SamplesNA19238, HG00731
Known GenesLINC00452
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235964
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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