A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2089542



Internal ID17487023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31193009..31202060hg38UCSC Ensembl
Innerchr17:29520027..29529078hg19UCSC Ensembl
Innerchr17:26544153..26553204hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389052
hg199052
hg189052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978407
Supporting Variants
SamplesHGDP00998
Known GenesNF1
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)nssv2089542
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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