A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586726



Internal ID16374135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64048115..64049803hg38UCSC Ensembl
Innerchr20:62679468..62681156hg19UCSC Ensembl
Innerchr20:62149912..62151600hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381689
hg191689
hg181689
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv944149, nssv944151, nssv944150
Samples
Known GenesSOX18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586726
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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