A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585946



Internal ID16026669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:36894776..36895806hg38UCSC Ensembl
Innerchr20:35523179..35524209hg19UCSC Ensembl
Innerchr20:34956593..34957623hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381031
hg191031
hg181031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7563n54
Supporting Variantsnssv939336, nssv939334, nssv939335, nssv939337, nssv939333
Samples
Known GenesSAMHD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585946
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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