A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559293



Internal ID16346702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71065496..71146135hg38UCSC Ensembl
Innerchr12:71459276..71539915hg19UCSC Ensembl
Innerchr12:69745543..69826182hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3880640
hg1980640
hg1880640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798079
Samples
Known GenesTSPAN8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559293
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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