A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998889



Internal ID18811739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:200534178..200586487hg38UCSC Ensembl
Innerchr1:200503306..200555615hg19UCSC Ensembl
Innerchr1:198769929..198822238hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3852310
hg1952310
hg1852310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3499567
Samples
Known GenesKIF14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998889
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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