A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557125



Internal ID15997848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4639244..4654971hg38UCSC Ensembl
Innerchr12:4748410..4764137hg19UCSC Ensembl
Innerchr12:4618671..4634398hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3815728
hg1915728
hg1815728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786744
Samples
Known GenesAKAP3, NDUFA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557125
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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