A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028143



Internal ID18770674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141273466..141427252hg38UCSC Ensembl
Innerchr8:142283565..142437352hg19UCSC Ensembl
Innerchr8:142352747..142506534hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38153787
hg19153788
hg18153788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7330n100
Supporting Variantsnssv3690079
Samples
Known GenesGPR20, LOC731779, PTP4A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028143
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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