A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016050



Internal ID18758585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86155561..86322968hg38UCSC Ensembl
Innerchr8:87167790..87335197hg19UCSC Ensembl
Innerchr8:87236906..87404313hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38167408
hg19167408
hg18167408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7263n100
Supporting Variantsnssv3689676, nssv3689677
Samples
Known GenesSLC7A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016050
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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