A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056411



Internal ID18798942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:32469234..33355029hg38UCSC Ensembl
Innerchr20:31057037..31942835hg19UCSC Ensembl
Innerchr20:30520698..31406496hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38885796
hg19885799
hg18885799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584732
Samples
Known GenesBPIFA1, BPIFA2, BPIFA3, BPIFA4P, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf112, C20orf203, COMMD7, DNMT3B, LOC149950, MAPRE1, SUN5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056411
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer