A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2288535



Internal ID17849870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:98132480..98133193hg38UCSC Ensembl
Innerchr3:97851324..97852037hg19UCSC Ensembl
Innerchr3:99334014..99334727hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38714
hg19714
hg18714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979860
Supporting Variants
SamplesHGDP01029
Known GenesOR5H1
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)nssv2288535
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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