A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579965



Internal ID16020688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51422265..51472469hg38UCSC Ensembl
Innerchr19:51925519..51975723hg19UCSC Ensembl
Innerchr19:56617331..56667535hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3850205
hg1950205
hg1850205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150657
SamplesHGDP01047
Known GenesSIGLEC8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579965
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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