A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548220



Internal ID15211542
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 Number9
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471417
Supporting Variants
SamplesNA18507
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)nssv548220
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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