A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2346376



Internal ID17773108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10487190..10489119hg38UCSC Ensembl
Innerchr5:10487302..10489231hg19UCSC Ensembl
Innerchr5:10540302..10542231hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381930
hg191930
hg181930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980607
Supporting Variants
SamplesHGDP00542
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)nssv2346376
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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