A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253404



Internal ID22116930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:70406689..70408347hg38UCSC Ensembl
Outerchr10:72166445..72168103hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235838
Supporting Variants
SamplesHG00512
Known GenesEIF4EBP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253404
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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