A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv644n100



Internal ID20152260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248834602..248930177hg38UCSC Ensembl
chr1:249128801..249224376hg19UCSC Ensembl
chr1:247095424..247190999hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3895576
hg1995576
hg1895576
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003280, nsv1015050, nsv1002991, nsv1014929
Samples
Known GenesPGBD2, 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)dgv644n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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