A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557079



Internal ID15997802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2794867..2797213hg38UCSC Ensembl
Innerchr12:2904033..2906379hg19UCSC Ensembl
Innerchr12:2774294..2776640hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382347
hg192347
hg182347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786696
Samples
Known GenesFKBP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557079
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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