A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv631n100



Internal ID20152247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248574134..248930177hg38UCSC Ensembl
chr1:248737435..249224376hg19UCSC Ensembl
chr1:246804058..247190999hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38356044
hg19486942
hg18386942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001011, nsv998867
Samples
Known GenesLYPD8, MIR3124, OR14I1, OR2T10, OR2T11, OR2T27, OR2T34, OR2T35, PGBD2, SH3BP5L, ZNF672, ZNF692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv631n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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