A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6241n100



Internal ID22792328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5709351..6016988hg38UCSC Ensembl
chr7:5748982..6056619hg19UCSC Ensembl
chr7:5715508..6023145hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38307638
hg19307638
hg18307638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016690, nsv1034215, nsv1027679
Samples
Known GenesAIMP2, CCZ1, MIR6874, OCM, PMS2, RNF216, RSPH10B, RSPH10B2, ZNF815P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6241n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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