A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266702



Internal ID22298792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234495697..234531604hg38UCSC Ensembl
Outerchr2:235404341..235440248hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381115
hg191115
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229936
Supporting Variants
SamplesNA19240
Known GenesARL4C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266702
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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