A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059789



Internal ID18802320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45721722..45753433hg38UCSC Ensembl
Innerchr20:44350361..44382072hg19UCSC Ensembl
Innerchr20:43783775..43815479hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3831712
hg1931712
hg1831705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4321n100
Supporting Variantsnssv3731358, nssv3584929
Samples
Known GenesSPINT4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059789
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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