A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2298685



Internal ID17888828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:178492786..178494000hg38UCSC Ensembl
Innerchr3:178210574..178211788hg19UCSC Ensembl
Innerchr3:179693268..179694482hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg381215
hg191215
hg181215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965235
Supporting Variants
SamplesHGDP01307
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)nssv2298685
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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