A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2352596



Internal ID17809427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32522904..32525457hg38UCSC Ensembl
Innerchr5:32523010..32525563hg19UCSC Ensembl
Innerchr5:32558767..32561320hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382554
hg192554
hg182554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964832
Supporting Variants
SamplesHGDP00778
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)nssv2352596
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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