A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546760



Internal ID16334169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:86548977..86634555hg38UCSC Ensembl
Innerchr1:87014660..87100238hg19UCSC Ensembl
Innerchr1:86787248..86872826hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3885579
hg1985579
hg1885579
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718732
Samples
Known GenesCLCA3P, CLCA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546760
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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