A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471417



Internal ID15211897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54832719..54848568hg38UCSC Ensembl
Outerchr19:55344174..55360023hg19UCSC Ensembl
Outerchr19:60035986..60051835hg18UCSC Ensembl
Outerchr19:60035986..60051835hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3815850
hg1915850
hg1815850
hg1715850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv548221, nssv548219, nssv548220
SamplesNA18507, JDW, YH
Known GenesKIR2DS4
MethodSequencing
AnalysisUsing absolute estimates of copy number, we calculated an in silico log2 ratio for each of the three genome-wide comparisons and compared it with the experimental values determined by array CGH.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsKIR2DS4
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nsv471417
Frequency
Sample Size3
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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