A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2351609



Internal ID17751583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32220573..32224306hg38UCSC Ensembl
Innerchr5:32220679..32224412hg19UCSC Ensembl
Innerchr5:32256436..32260169hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg383734
hg193734
hg183734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964830
Supporting Variants
SamplesHGDP00521
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)nssv2351609
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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