A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559653



Internal ID16347062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85033913..85244311hg38UCSC Ensembl
Innerchr12:85427691..85638089hg19UCSC Ensembl
Innerchr12:83951822..84162220hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38210399
hg19210399
hg18210399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv799947
Samples
Known GenesLRRIQ1, TSPAN19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559653
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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