A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458964



Internal ID15172343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:33152998..33229798hg38UCSC Ensembl
Innerchr20:31740804..31817604hg19UCSC Ensembl
Innerchr20:31204465..31281265hg18UCSC Ensembl
Innerchr20:31204465..31281265hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3876801
hg1976801
hg1876801
hg1776801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535816
Samples1798860570_A
Known GenesBPIFA2, BPIFA3, BPIFA4P
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv458964
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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