A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6319n100



Internal ID22792406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33084393..33150979hg38UCSC Ensembl
chr7:33124005..33190591hg19UCSC Ensembl
chr7:33090530..33157116hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3866587
hg1966587
hg1866587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030007, nsv1025361, nsv1027807, nsv1020741, nsv1028637, nsv1033502, nsv1026615
Samples
Known GenesBBS9, RP9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6319n100
Frequency
Sample Size11257
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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