A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022561



Internal ID19111779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67098924..67217520hg38UCSC Ensembl
Innerchr8:68011159..68129755hg19UCSC Ensembl
Innerchr8:68173713..68292309hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38118597
hg19118597
hg18118597
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7235n100
Supporting Variantsnssv3689480
Samples
Known GenesARFGEF1, CSPP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022561
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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