A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027116



Internal ID19116335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132769940..132860065hg38UCSC Ensembl
Innerchr8:133782186..133872310hg19UCSC Ensembl
Innerchr8:133851368..133941492hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3890126
hg1990125
hg1890125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7318n100
Supporting Variantsnssv3691550
Samples
Known GenesPHF20L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027116
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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