A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2111000



Internal ID17468514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76044208..76046348hg38UCSC Ensembl
Innerchr17:74040289..74042429hg19UCSC Ensembl
Innerchr17:71551884..71554024hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382141
hg192141
hg182141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960531
Supporting Variants
SamplesHGDP00927
Known GenesSRP68
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)nssv2111000
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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