A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6253n100



Internal ID20157869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:8139207..8488238hg38UCSC Ensembl
chr7:8178837..8527868hg19UCSC Ensembl
chr7:8145362..8494393hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38349032
hg19349032
hg18349032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1020942, nsv1030373, nsv1026247, nsv1034583
Samples
Known GenesICA1, NXPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6253n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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