A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560551



Internal ID16001274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540246..124541491hg38UCSC Ensembl
Innerchr12:125024792..125026037hg19UCSC Ensembl
Innerchr12:123590745..123591990hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381246
hg191246
hg181246
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2937n54
Supporting Variantsnssv803912, nssv803913
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560551
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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