A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998124



Internal ID18810974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:219959397..220015869hg38UCSC Ensembl
Innerchr1:220132739..220189211hg19UCSC Ensembl
Innerchr1:218199362..218255834hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3856473
hg1956473
hg1856473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3498678
Samples
Known GenesEPRS, RNU5F-1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998124
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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