A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557089



Internal ID15997812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3197702..3198981hg38UCSC Ensembl
Innerchr12:3306868..3308147hg19UCSC Ensembl
Innerchr12:3177129..3178408hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381280
hg191280
hg181280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786704
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557089
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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