A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557076



Internal ID16344485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2794710..2796064hg38UCSC Ensembl
Innerchr12:2903876..2905230hg19UCSC Ensembl
Innerchr12:2774137..2775491hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381355
hg191355
hg181355
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2289n54
Supporting Variantsnssv786693
Samples
Known GenesFKBP4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557076
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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