A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2091636



Internal ID17837355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35192698..35194247hg38UCSC Ensembl
Innerchr17:33519717..33521266hg19UCSC Ensembl
Innerchr17:30543830..30545379hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381550
hg191550
hg181550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962311
Supporting Variants
SamplesHGDP00998
Known GenesSLC35G3
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)nssv2091636
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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