A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv199n100



Internal ID22786286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76700150..76727974hg38UCSC Ensembl
chr1:77165835..77193659hg19UCSC Ensembl
chr1:76938423..76966247hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3827825
hg1927825
hg1827825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998628, nsv1007154, nsv1000499
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv199n100
Frequency
Sample Size11257
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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