A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264802



Internal ID22280156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154707561..154717460hg38UCSC Ensembl
Outerchr1:154680037..154689936hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382359
hg192359
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212021
Supporting Variants
SamplesNA19239
Known GenesKCNN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264802
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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