A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259775



Internal ID22145278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3578477..3587272hg38UCSC Ensembl
Outerchr1:3495041..3503836hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381644
hg191644
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227089
Supporting Variants
SamplesHG00514
Known GenesMEGF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259775
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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