A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559919



Internal ID16000642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98637273..98715645hg38UCSC Ensembl
Innerchr12:99031051..99109423hg19UCSC Ensembl
Innerchr12:97555182..97633554hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3878373
hg1978373
hg1878373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801298
Samples
Known GenesAPAF1, IKBIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559919
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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