A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560388



Internal ID16001111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117953795..118044547hg38UCSC Ensembl
Innerchr12:118391600..118482352hg19UCSC Ensembl
Innerchr12:116875983..116966735hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3890753
hg1990753
hg1890753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803307
Samples
Known GenesKSR2, RFC5, WSB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560388
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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