A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2088696



Internal ID17485535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28580020..28581912hg38UCSC Ensembl
Innerchr17:26907038..26908930hg19UCSC Ensembl
Innerchr17:23931165..23933057hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381893
hg191893
hg181893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962300
Supporting Variants
SamplesHGDP00998
Known GenesSPAG5
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)nssv2088696
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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