A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509553



Internal ID15825579
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
hg385729
hg195729
hg185729
hg175729
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619662, nssv623666
SamplesNA18994, NA10860
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)nsv509553
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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