A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545345



Internal ID15986068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8831066..9035551hg38UCSC Ensembl
Innerchr1:8891125..9095610hg19UCSC Ensembl
Innerchr1:8813712..9018197hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38204486
hg19204486
hg18204486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709653
Samples
Known GenesCA6, ENO1, ENO1-AS1, MIR6728, SLC2A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545345
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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