A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053830



Internal ID19143049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41643678..41666268hg38UCSC Ensembl
Innerchr12:42037480..42060070hg19UCSC Ensembl
Innerchr12:40323747..40346337hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3822591
hg1922591
hg1822591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1492n100
Supporting Variantsnssv3712454, nssv3523504
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)nsv1053830
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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