A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053234



Internal ID19142453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86307292..86381179hg38UCSC Ensembl
Innerchr12:86701070..86774957hg19UCSC Ensembl
Innerchr12:85225201..85299088hg18UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3873888
hg1973888
hg1873888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524768
Samples
Known GenesMGAT4C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053234
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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