A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265545



Internal ID22120890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26703915..26720726hg38UCSC Ensembl
Outerchr2:26926783..26943594hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382335
hg192335
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229228
Supporting Variants
SamplesHG00512
Known GenesKCNK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265545
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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