A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586237



Internal ID16373646
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 StatusM
Merged Variantsdgv7609n54
Supporting Variantsnssv1151363, nssv1151365, nssv1151364, nssv1151366
SamplesHGDP00730, NINDS_118, 1780854486_A, HGDP00254
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586237
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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