A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235571



Internal ID22373329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:35731483..35754623hg38UCSC Ensembl
Outerchr13:36305620..36328760hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382037
hg192037
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256638, nssv14256642, nssv14256639, nssv14256640, nssv14256641
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known GenesMIR548F5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235571
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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