A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2103493



Internal ID17504632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58475475..58479642hg38UCSC Ensembl
Innerchr17:56552836..56557003hg19UCSC Ensembl
Innerchr17:53907835..53912002hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384168
hg194168
hg184168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960509
Supporting Variants
SamplesHGDP01029
Known GenesHSF5
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)nssv2103493
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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