A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028813



Internal ID19118032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52495153..52559272hg38UCSC Ensembl
Innerchr8:53407713..53471832hg19UCSC Ensembl
Innerchr8:53570266..53634385hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3864120
hg1964120
hg1864120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7219n100
Supporting Variantsnssv3757260
Samples
Known GenesFAM150A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028813
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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