A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258009



Internal ID22264909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104805271..104842647hg38UCSC Ensembl
Outerchr14:105271608..105308984hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383149
hg193149
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237235
Supporting Variants
SamplesNA19238
Known GenesLINC00638
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258009
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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