A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557772



Internal ID15998495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23952940..24015777hg38UCSC Ensembl
Innerchr12:24105874..24168711hg19UCSC Ensembl
Innerchr12:23997141..24059978hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3862838
hg1962838
hg1862838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789644
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557772
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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