A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266727



Internal ID22258266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240571397..240601613hg38UCSC Ensembl
Outerchr2:241510814..241541030hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217094
Supporting Variants
SamplesNA19238
Known GenesCAPN10, CAPN10-AS1, RNPEPL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266727
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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