A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222677



Internal ID22366680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:119837655..119848804hg38UCSC Ensembl
Outerchr2:120595231..120606380hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38785
hg19785
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265940, nssv14265938, nssv14265939
SamplesHG00512, NA19238, NA19239
Known GenesPTPN4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222677
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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