A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560501



Internal ID16001224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123909150..123912331hg38UCSC Ensembl
Innerchr12:124393697..124396878hg19UCSC Ensembl
Innerchr12:122959650..122962831hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383182
hg193182
hg183182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2927n54
Supporting Variantsnssv803658
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560501
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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