A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623666



Internal ID15822239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104128531..104245731hg38UCSC Ensembl
Outerchr14:104594868..104712068hg19UCSC Ensembl
Outerchr14:103664621..103781821hg18UCSC Ensembl
Outerchr14:103664621..103781821hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg386510
hg196510
hg186510
hg176510
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509553
Supporting Variants
SamplesNA18994
Known GenesKIF26A
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv623666
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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