A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2102295



Internal ID17514134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49423430..49424732hg38UCSC Ensembl
Innerchr17:47500792..47502094hg19UCSC Ensembl
Innerchr17:44855791..44857093hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381303
hg191303
hg181303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960503
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv2102295
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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