A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2087651



Internal ID17474908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27769742..27772429hg38UCSC Ensembl
Innerchr17:26096768..26099455hg19UCSC Ensembl
Innerchr17:23120895..23123582hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg382688
hg192688
hg182688
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962299
Supporting Variants
SamplesHGDP00927
Known GenesNOS2
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)nssv2087651
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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