A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2081623



Internal ID17818692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18779241..18804104hg38UCSC Ensembl
Innerchr17:18682554..18707417hg19UCSC Ensembl
Innerchr17:18623279..18648142hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3824864
hg1924864
hg1824864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960431
Supporting Variants
SamplesHGDP00927
Known GenesFBXW10, TVP23B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2081623
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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