A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001769



Internal ID18744300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:200555277..200613666hg38UCSC Ensembl
Innerchr1:200524405..200582794hg19UCSC Ensembl
Innerchr1:198791028..198849417hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3858390
hg1958390
hg1858390
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv559n100
Supporting Variantsnssv3501120
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)nsv1001769
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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