A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586251



Internal ID16373660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031291..54036948hg38UCSC Ensembl
Innerchr20:52647830..52653487hg19UCSC Ensembl
Innerchr20:52081237..52086894hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg385658
hg195658
hg185658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7609n54
Supporting Variantsnssv1151372, nssv1151371
Samples1780854464_A, NINDS_220
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586251
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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