A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021919



Internal ID18764453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:51576279..51606163hg38UCSC Ensembl
Innerchr8:52488839..52518723hg19UCSC Ensembl
Innerchr8:52651392..52681276hg18UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg3829885
hg1929885
hg1829885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7216n100
Supporting Variantsnssv3687493, nssv3687492
Samples
Known GenesPXDNL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021919
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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