A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6547n100



Internal ID22792634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105166760..105542551hg38UCSC Ensembl
chr7:104807207..105182998hg19UCSC Ensembl
chr7:104594443..104970234hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38375792
hg19375792
hg18375792
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015688, nsv1028228
Samples
Known GenesPUS7, RINT1, SRPK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6547n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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