A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560561



Internal ID16001284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540407..124541660hg38UCSC Ensembl
Innerchr12:125024953..125026206hg19UCSC Ensembl
Innerchr12:123590906..123592159hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381254
hg191254
hg181254
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2942n54
Supporting Variantsnssv803980, nssv803978, nssv803979
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560561
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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