A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6232n100



Internal ID22792319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4248096..4361497hg38UCSC Ensembl
chr7:4287728..4401128hg19UCSC Ensembl
chr7:4254254..4367654hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38113402
hg19113401
hg18113401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025054, nsv1027592
Samples
Known GenesSDK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6232n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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