A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029131



Internal ID18771663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56137350..56197638hg38UCSC Ensembl
Innerchr8:57049909..57110197hg19UCSC Ensembl
Innerchr8:57212463..57272751hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3860289
hg1960289
hg1860289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7229n100
Supporting Variantsnssv3688701
Samples
Known GenesPLAG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029131
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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