A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018429



Internal ID18760962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51498883..51966386hg38UCSC Ensembl
Innerchr8:52411443..52878946hg19UCSC Ensembl
Innerchr8:52573996..53041499hg18UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg38467504
hg19467504
hg18467504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7215n100
Supporting Variantsnssv3687485
Samples
Known GenesPCMTD1, PXDNL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018429
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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