A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557112



Internal ID16344521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3248826..3276481hg38UCSC Ensembl
Innerchr12:3357992..3385647hg19UCSC Ensembl
Innerchr12:3228253..3255908hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3827656
hg1927656
hg1827656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786736
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557112
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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