A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3757240



Internal ID18708835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43202651..43968893hg38UCSC Ensembl
Innerchr8:43057794..43824036hg19UCSC Ensembl
Innerchr8:43176951..43943193hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38766243
hg19766243
hg18766243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029910
Supporting Variants
Samples
Known GenesHGSNAT, POTEA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3757240
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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