A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265739



Internal ID22134966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:64893064..64917791hg38UCSC Ensembl
Outerchr2:65120198..65144925hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381170
hg191170
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212770
Supporting Variants
SamplesHG00513
Known GenesLOC400958
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265739
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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