A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557765



Internal ID15998488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23781464..23789850hg38UCSC Ensembl
Innerchr12:23934398..23942784hg19UCSC Ensembl
Innerchr12:23825665..23834051hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg388387
hg198387
hg188387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2411n54
Supporting Variantsnssv789590
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557765
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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