A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053611



Internal ID19142830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53815520..53847529hg38UCSC Ensembl
Innerchr12:54209304..54241313hg19UCSC Ensembl
Innerchr12:52495571..52527580hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3832010
hg1932010
hg1832010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523594
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)nsv1053611
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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