A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609569



Internal ID16396978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2044822..2082636hg38UCSC Ensembl
Innerchr8:1992937..2030768hg19UCSC Ensembl
Innerchr8:1980344..2018175hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3837815
hg1937832
hg1837832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155951
SamplesHGDP00084
Known GenesMIR7160, MYOM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609569
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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