A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv200n100



Internal ID22786287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76909851..76965054hg38UCSC Ensembl
chr1:77375536..77430739hg19UCSC Ensembl
chr1:77148124..77203327hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3855204
hg1955204
hg1855204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006696, nsv999350, nsv1005548
Samples
Known GenesST6GALNAC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv200n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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