A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv476n100



Internal ID20152092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180157303..180231969hg38UCSC Ensembl
chr1:180126438..180201104hg19UCSC Ensembl
chr1:178393061..178467727hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3874667
hg1974667
hg1874667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999247, nsv1007515, nsv1007334, nsv1005030, nsv1001909, nsv1004421, nsv1002768, nsv1013314, nsv1012816, nsv1011134, nsv1011191, nsv1000954
Samples
Known GenesFLJ23867, LHX4, QSOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv476n100
Frequency
Sample Size29084
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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