A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012808



Internal ID19102025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85990027..86004806hg38UCSC Ensembl
Innerchr1:86455710..86470489hg19UCSC Ensembl
Innerchr1:86228298..86243077hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3814780
hg1914780
hg1814780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3699597
Samples
Known GenesCOL24A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012808
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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