A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559918



Internal ID16000641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98570959..98666572hg38UCSC Ensembl
Innerchr12:98964737..99060350hg19UCSC Ensembl
Innerchr12:97488868..97584481hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3895614
hg1995614
hg1895614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801297
Samples
Known GenesAPAF1, IKBIP, SLC25A3, SNORA53
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559918
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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