A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6462n100



Internal ID20158078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72604984..72950972hg38UCSC Ensembl
chr7:72069969..72421511hg19UCSC Ensembl
chr7:71707905..72059447hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38345989
hg19351543
hg18351543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018204, nsv1027661
Samples
Known GenesMIR4650-1, MIR4650-2, NSUN5P2, POM121, SBDSP1, SPDYE7P, TYW1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6462n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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