A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv461n100



Internal ID20152077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169923143..169981200hg38UCSC Ensembl
chr1:169892284..169950341hg19UCSC Ensembl
chr1:168158908..168216965hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3858058
hg1958058
hg1858058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009843, nsv1003588, nsv1011978, nsv997360, nsv1010007, nsv1012222
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)dgv461n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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