A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6367n100



Internal ID20157983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56793973..57541341hg38UCSC Ensembl
chr7:56861666..57601047hg19UCSC Ensembl
chr7:56829160..57604989hg18UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38747369
hg19739382
hg18775830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029803, nsv1031261
Samples
Known GenesGUSBP10, LOC100130849, MIR3147, MIR4283-1, MIR4283-2, ZNF479, ZNF716
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6367n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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