A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020751



Internal ID18763285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7894514..8108655hg38UCSC Ensembl
Innerchr8:7752036..7966177hg19UCSC Ensembl
Innerchr8:7789446..8003587hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38214142
hg19214142
hg18214142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6980n100
Supporting Variantsnssv3681166
Samples
Known GenesDEFB109P1B, DEFB4A, FAM66E, MIR548I3, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020751
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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