A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257965



Internal ID22145012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103849406..103900843hg38UCSC Ensembl
Outerchr14:104315743..104367180hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381477
hg191477
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241507
Supporting Variants
SamplesHG00514
Known GenesLINC00637
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257965
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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