A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269453



Internal ID22271997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:241663397..241682973hg38UCSC Ensembl
Outerchr1:241826699..241846275hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220890
Supporting Variants
SamplesNA19239
Known GenesWDR64
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269453
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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