A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017527



Internal ID19106744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52495153..52580301hg38UCSC Ensembl
Innerchr8:53407713..53492861hg19UCSC Ensembl
Innerchr8:53570266..53655414hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3885149
hg1985149
hg1885149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7219n100
Supporting Variantsnssv3757261
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)nsv1017527
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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