A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151364



Internal ID15529045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54036948hg38UCSC Ensembl
Innerchr20:52647823..52653487hg19UCSC Ensembl
Innerchr20:52081230..52086894hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg385665
hg195665
hg185665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586237
Supporting Variants
SamplesHGDP00730
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151364
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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