A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560565



Internal ID16001288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540407..124545229hg38UCSC Ensembl
Innerchr12:125024953..125029775hg19UCSC Ensembl
Innerchr12:123590906..123595728hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384823
hg194823
hg184823
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2940n54
Supporting Variantsnssv804023, nssv804025, nssv804024
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560565
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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