A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050454



Internal ID19139673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19575043..19656321hg38UCSC Ensembl
Innerchr12:19727977..19809255hg19UCSC Ensembl
Innerchr12:19619244..19700522hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3881279
hg1981279
hg1881279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1400n100
Supporting Variantsnssv3710327
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)nsv1050454
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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