A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013472



Internal ID19102690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233716299..233811039hg38UCSC Ensembl
Innerchr1:233852045..233946785hg19UCSC Ensembl
Innerchr1:231918668..232013408hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3894741
hg1994741
hg1894741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3497286
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)nsv1013472
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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