A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2076111



Internal ID17861116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10418596..10420400hg38UCSC Ensembl
Innerchr17:10321913..10323717hg19UCSC Ensembl
Innerchr17:10262638..10264442hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381805
hg191805
hg181805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978359
Supporting Variants
SamplesHGDP01284
Known GenesMYH8
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)nssv2076111
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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