A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005982



Internal ID18748513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169944456..169989078hg38UCSC Ensembl
Innerchr1:169913597..169958219hg19UCSC Ensembl
Innerchr1:168180221..168224843hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3844623
hg1944623
hg1844623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv464n100
Supporting Variantsnssv3501957
Samples
Known GenesKIFAP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005982
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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