A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560526



Internal ID16001249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911588..123912331hg38UCSC Ensembl
Innerchr12:124396135..124396878hg19UCSC Ensembl
Innerchr12:122962088..122962831hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38744
hg19744
hg18744
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2928n54
Supporting Variantsnssv803867, nssv803866, nssv803865, nssv803864, nssv803862, nssv803863
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560526
Frequency
Sample Size17421
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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