A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027939



Internal ID18770470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43152014..43677695hg38UCSC Ensembl
Innerchr8:43007157..43532838hg19UCSC Ensembl
Innerchr8:43126314..43651995hg18UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg38525682
hg19525682
hg18525682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7188n100
Supporting Variantsnssv3687268
Samples
Known GenesHGSNAT, POTEA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027939
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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