A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211533



Internal ID22359061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238866205..238874413hg38UCSC Ensembl
Outerchr2:239774846..239783054hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383315
hg193315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265725, nssv14265723, nssv14265722, nssv14265728, nssv14265724, nssv14265726, nssv14265727, nssv14265729
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesTWIST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211533
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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