A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5216n100



Internal ID22791303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57180758..57222974hg38UCSC Ensembl
chr4:58046924..58089140hg19UCSC Ensembl
chr4:57741681..57783897hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3842217
hg1942217
hg1842217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003291, nsv1011079, nsv1011599, nsv1014020, nsv1014829
Samples
Known GenesIGFBP7-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5216n100
Frequency
Sample Size11257
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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