A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2098807



Internal ID17850992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43917951..43931088hg38UCSC Ensembl
Innerchr17:41995319..42008456hg19UCSC Ensembl
Innerchr17:39350845..39363982hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3813138
hg1913138
hg1813138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960112
Supporting Variants
SamplesHGDP01029
Known GenesFAM215A
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)nssv2098807
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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