A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560552



Internal ID16001275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540246..124541609hg38UCSC Ensembl
Innerchr12:125024792..125026155hg19UCSC Ensembl
Innerchr12:123590745..123592108hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381364
hg191364
hg181364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2938n54
Supporting Variantsnssv803914, nssv803915, nssv803916
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560552
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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