A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2090517



Internal ID17472310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31221313..31233000hg38UCSC Ensembl
Innerchr17:29548331..29560018hg19UCSC Ensembl
Innerchr17:26572457..26584144hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3811688
hg1911688
hg1811688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962307
Supporting Variants
SamplesHGDP00927
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)nssv2090517
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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