A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028959



Internal ID18771491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85823138..86130154hg38UCSC Ensembl
Innerchr8:86835367..87142383hg19UCSC Ensembl
Innerchr8:86904661..87211499hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38307017
hg19307017
hg18306839
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689666
Samples
Known GenesATP6V0D2, PSKH2, REXO1L2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028959
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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