A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047056



Internal ID19136275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130248505..130287208hg38UCSC Ensembl
Innerchr12:130733050..130771753hg19UCSC Ensembl
Innerchr12:129299003..129337706hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3838704
hg1938704
hg1838704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526194
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)nsv1047056
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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