A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv460n100



Internal ID22786547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169921401..169960441hg38UCSC Ensembl
chr1:169890542..169929582hg19UCSC Ensembl
chr1:168157166..168196206hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3839041
hg1939041
hg1839041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015110, nsv1007190, nsv1003803, nsv998382
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)dgv460n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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