A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053578



Internal ID19142797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114135985..114193585hg38UCSC Ensembl
Innerchr12:114573790..114631390hg19UCSC Ensembl
Innerchr12:113058173..113115773hg18UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3857601
hg1957601
hg1857601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1558n100
Supporting Variantsnssv3524950
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)nsv1053578
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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