A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557770



Internal ID15998493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23786618..23788764hg38UCSC Ensembl
Innerchr12:23939552..23941698hg19UCSC Ensembl
Innerchr12:23830819..23832965hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382147
hg192147
hg182147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789640, nssv789642, nssv789639, nssv789641, nssv789638
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557770
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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