A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv562n100



Internal ID20152178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202634520..202809133hg38UCSC Ensembl
chr1:202603648..202778261hg19UCSC Ensembl
chr1:200870271..201044884hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38174614
hg19174614
hg18174614
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010265, nsv999672
Samples
Known GenesKDM5B, SYT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv562n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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