A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054563



Internal ID19143782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16045107..16176119hg38UCSC Ensembl
Innerchr12:16198041..16329053hg19UCSC Ensembl
Innerchr12:16089308..16220320hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38131013
hg19131013
hg18131013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710283
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054563
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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