A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2092488



Internal ID17409466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36080633..36110086hg38UCSC Ensembl
Innerchr17:34407991..34437479hg19UCSC Ensembl
Innerchr17:31432104..31461592hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3829454
hg1929489
hg1829489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960470
Supporting Variants
SamplesHGDP00521
Known GenesCCL3, CCL4
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)nssv2092488
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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