A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266525



Internal ID22187060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240788432..240872788hg38UCSC Ensembl
Outerchr2:241727849..241812205hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219359
Supporting Variants
SamplesHG00731
Known GenesAGXT, KIF1A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266525
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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