A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560454



Internal ID16001177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121019270..121307939hg38UCSC Ensembl
Innerchr12:121457073..121745742hg19UCSC Ensembl
Innerchr12:119941456..120230125hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38288670
hg19288670
hg18288670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803427
Samples
Known GenesCAMKK2, OASL, P2RX4, P2RX7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560454
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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