A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2235785



Internal ID17787722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34221753..34228435hg38UCSC Ensembl
Innerchr20:32809559..32816241hg19UCSC Ensembl
Innerchr20:32273220..32279902hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg386683
hg196683
hg186683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv965871
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2235785
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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