A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015244



Internal ID18757778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6781378..7131392hg38UCSC Ensembl
Innerchr8:6638899..6988914hg19UCSC Ensembl
Innerchr8:6626309..6976324hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38350015
hg19350016
hg18350016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3677439
Samples
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2, LOC100652791, XKR5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015244
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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