A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2236060



Internal ID17458379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38976243..38979946hg38UCSC Ensembl
Innerchr20:37604886..37608589hg19UCSC Ensembl
Innerchr20:37038300..37042003hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg383704
hg193704
hg183704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979433
Supporting Variants
SamplesHGDP00778
Known GenesDHX35
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2236060
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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