A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586122



Internal ID16026845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:45722456..45734110hg38UCSC Ensembl
Innerchr20:44351095..44362749hg19UCSC Ensembl
Innerchr20:43784509..43796156hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3811655
hg1911655
hg1811648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7591n54
Supporting Variantsnssv940853, nssv940852, nssv940851
Samples
Known GenesSPINT4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586122
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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