A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2101794



Internal ID17484987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49403784..49405900hg38UCSC Ensembl
Innerchr17:47481146..47483262hg19UCSC Ensembl
Innerchr17:44836145..44838261hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg382117
hg192117
hg182117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978437
Supporting Variants
SamplesHGDP00998
Known GenesPHB
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)nssv2101794
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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