A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv588n100



Internal ID22786675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235813294..235881466hg38UCSC Ensembl
chr1:235976594..236044766hg19UCSC Ensembl
chr1:234043217..234111389hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3868173
hg1968173
hg1868173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997513, nsv1007914
Samples
Known GenesLYST, MIR1537
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv588n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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