A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv230n100



Internal ID22786317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:104003415..104132642hg38UCSC Ensembl
chr1:104546037..104675264hg19UCSC Ensembl
chr1:104347560..104476787hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38129228
hg19129228
hg18129228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999512, nsv1002973, nsv1014933, nsv1005132, nsv1002477
Samples
Known GenesLOC100129138
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv230n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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