A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053893



Internal ID19143112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119552240..119563529hg38UCSC Ensembl
Innerchr12:119990045..120001334hg19UCSC Ensembl
Innerchr12:118474428..118485717hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3811290
hg1911290
hg1811290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1565n100
Supporting Variantsnssv3526086
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)nsv1053893
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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