A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062327



Internal ID18804858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47663210..48334183hg38UCSC Ensembl
Innerchr20:46291954..46962926hg19UCSC Ensembl
Innerchr20:45725361..46396333hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38670974
hg19670973
hg18670973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4322n100
Supporting Variantsnssv3584946
Samples
Known GenesSULF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062327
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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