A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238756



Internal ID22374249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:33643973..33650458hg38UCSC Ensembl
Outerchr11:33665519..33672004hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381709
hg191709
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255693, nssv14255691, nssv14255692, nssv14255690
SamplesHG00512, HG00731, HG00513, HG00514
Known GenesKIAA1549L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238756
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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