A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041312



Internal ID19130531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37659423..38044017hg38UCSC Ensembl
Innerchr12:38053225..38437819hg19UCSC Ensembl
Innerchr12:36339492..36724086hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38384595
hg19384595
hg18384595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1470n100
Supporting Variantsnssv3523036
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)nsv1041312
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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