A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053036



Internal ID19142255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130593880..130645732hg38UCSC Ensembl
Innerchr12:131078425..131130277hg19UCSC Ensembl
Innerchr12:129644378..129696230hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3851853
hg1951853
hg1851853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526202
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)nsv1053036
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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