A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038049



Internal ID19127268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31258117hg38UCSC Ensembl
Innerchr12:31278031..31411051hg19UCSC Ensembl
Innerchr12:31169298..31302318hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38133021
hg19133021
hg18133021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3711247
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)nsv1038049
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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