A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605069



Internal ID16045792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161541089..161580404hg38UCSC Ensembl
Innerchr6:161962121..162001436hg19UCSC Ensembl
Innerchr6:161882111..161921426hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3839316
hg1939316
hg1839316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155101
SamplesHGDP00047
Known GenesPARK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605069
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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