A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560553



Internal ID16001276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540246..124541785hg38UCSC Ensembl
Innerchr12:125024792..125026331hg19UCSC Ensembl
Innerchr12:123590745..123592284hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381540
hg191540
hg181540
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2939n54
Supporting Variantsnssv803918, nssv803919, nssv803917, nssv803920
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560553
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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