A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557763



Internal ID15998486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23776092..23788764hg38UCSC Ensembl
Innerchr12:23929026..23941698hg19UCSC Ensembl
Innerchr12:23820293..23832965hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3812673
hg1912673
hg1812673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2410n54
Supporting Variantsnssv789588
Samples
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557763
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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