A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3654228



Internal ID18605823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2379645..2485952hg38UCSC Ensembl
Innerchr7:2419280..2525586hg19UCSC Ensembl
Innerchr7:2385806..2492112hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38106308
hg19106307
hg18106307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032737
Supporting Variants
Samples
Known GenesCHST12, EIF3B, LOC101927181
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3654228
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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