A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545443



Internal ID15986166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12565072..12624831hg38UCSC Ensembl
Innerchr1:12625101..12684837hg19UCSC Ensembl
Innerchr1:12547688..12607424hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3859760
hg1959737
hg1859737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173676
SamplesHGDP00259
Known GenesDHRS3, MIR6730
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545443
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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