A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053339



Internal ID19142558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19587600..19635411hg38UCSC Ensembl
Innerchr12:19740534..19788345hg19UCSC Ensembl
Innerchr12:19631801..19679612hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3847812
hg1947812
hg1847812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1401n100
Supporting Variantsnssv3522336
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)nsv1053339
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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