A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2111193



Internal ID17782424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76343422..76346960hg38UCSC Ensembl
Innerchr17:74339503..74343041hg19UCSC Ensembl
Innerchr17:71851098..71854636hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383539
hg193539
hg183539
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962367
Supporting Variants
SamplesHGDP00665
Known GenesPRPSAP1
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)nssv2111193
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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