A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217780



Internal ID22363332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:143232417..143255125hg38UCSC Ensembl
Outerchr2:143989986..144012694hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg386285
hg196285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265704, nssv14265705, nssv14265706, nssv14265707
SamplesHG00512, HG00731, HG00733, HG00514
Known GenesARHGAP15
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217780
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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