A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262302



Internal ID22119860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:32639205..32652135hg38UCSC Ensembl
Outerchr1:33104806..33117736hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg381050
hg191050
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221494
Supporting Variants
SamplesHG00512
Known GenesRBBP4, ZBTB8OS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262302
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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