A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582473



Internal ID16369882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91863839..91984727hg38UCSC Ensembl
Innerchr2:92051865..92172753hg19UCSC Ensembl
Innerchr2:91415592..91536480hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38120889
hg19120889
hg18120889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv914060
Samples
Known GenesACTR3BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582473
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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