A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560518



Internal ID16001241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123911486..123912331hg38UCSC Ensembl
Innerchr12:124396033..124396878hg19UCSC Ensembl
Innerchr12:122961986..122962831hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38846
hg19846
hg18846
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2928n54
Supporting Variantsnssv803826, nssv803824, nssv803825, nssv803827, nssv803821, nssv803822, nssv803823
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560518
Frequency
Sample Size17421
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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