A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624415



Internal ID15501265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51870492..51872308hg38UCSC Ensembl
Outerchr6:51735290..51737106hg19UCSC Ensembl
Outerchr6:51843249..51845065hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381817
hg191817
hg181817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511882
Supporting Variants
Samples1
Known GenesPKHD1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624415
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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