A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2080604



Internal ID17833271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16855405..16885689hg38UCSC Ensembl
Innerchr17:16758719..16789003hg19UCSC Ensembl
Innerchr17:16699444..16729728hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3830285
hg1930285
hg1830285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960065
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv2080604
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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