A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060206



Internal ID19149425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9721173..9783421hg38UCSC Ensembl
Innerchr20:9701821..9764069hg19UCSC Ensembl
Innerchr20:9649821..9712069hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3862249
hg1962249
hg1862249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599369
Samples
Known GenesPAK7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060206
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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