A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557768



Internal ID15998491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23786066..23844579hg38UCSC Ensembl
Innerchr12:23939000..23997513hg19UCSC Ensembl
Innerchr12:23830267..23888780hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3858514
hg1958514
hg1858514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789594
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557768
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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