A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016348



Internal ID18758883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:132769270..132803626hg38UCSC Ensembl
Innerchr8:133781516..133815871hg19UCSC Ensembl
Innerchr8:133850698..133885053hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3834357
hg1934356
hg1834356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3691545
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)nsv1016348
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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