A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1036643



Internal ID19125862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114161422..114179112hg38UCSC Ensembl
Innerchr12:114599227..114616917hg19UCSC Ensembl
Innerchr12:113083610..113101300hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3817691
hg1917691
hg1817691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524951
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)nsv1036643
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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