A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060241



Internal ID18802772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33172902..33244962hg38UCSC Ensembl
Innerchr20:31760708..31832768hg19UCSC Ensembl
Innerchr20:31224369..31296429hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3872061
hg1972061
hg1872061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584739
Samples
Known GenesBPIFA1, BPIFA2, BPIFA3, BPIFA4P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060241
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