A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560090



Internal ID16000813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106541358..106830191hg38UCSC Ensembl
Innerchr12:106935136..107223969hg19UCSC Ensembl
Innerchr12:105459266..105748099hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38288834
hg19288834
hg18288834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801896
Samples
Known GenesLOC100287944, LOC100505978, RFX4, RIC8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560090
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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