A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560634



Internal ID16348043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127100802..127555957hg38UCSC Ensembl
Innerchr12:127585347..128040502hg19UCSC Ensembl
Innerchr12:126151300..126606455hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38455156
hg19455156
hg18455156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2954n54
Supporting Variantsnssv804211
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560634
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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