A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585948



Internal ID16026671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:36895055..36895806hg38UCSC Ensembl
Innerchr20:35523458..35524209hg19UCSC Ensembl
Innerchr20:34956872..34957623hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38752
hg19752
hg18752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7564n54
Supporting Variantsnssv939341, nssv939344, nssv939345, nssv939342, nssv939343, nssv939340, nssv939339
Samples
Known GenesSAMHD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585948
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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