A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2111562



Internal ID17403400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81509722..81520115hg38UCSC Ensembl
Innerchr17:79476748..79487141hg19UCSC Ensembl
Innerchr17:77091343..77101736hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810394
hg1910394
hg1810394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978468
Supporting Variants
SamplesHGDP00521
Known GenesACTG1
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)nssv2111562
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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