A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510643



Internal ID15478139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73483755..73582944hg38UCSC Ensembl
Outerchr14:73950460..74049648hg19UCSC Ensembl
Outerchr14:73020213..73119401hg18UCSC Ensembl
Outerchr14:73020213..73119401hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3899190
hg1999189
hg1899189
hg1799189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622687, nssv618920
SamplesNA18994, NA10860
Known GenesACOT1, ACOT2, C14orf169, HEATR4
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)nsv510643
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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