A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620076



Internal ID15819431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:69516576..69563618hg38UCSC Ensembl
Outerchr14:69983293..70030335hg19UCSC Ensembl
Outerchr14:69053046..69100088hg18UCSC Ensembl
Outerchr14:69053046..69100088hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3847043
hg1947043
hg1847043
hg1747043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv510642
Supporting Variants
SamplesNA15510
Known GenesPLEKHD1
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)nssv620076
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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