A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2366176



Internal ID17739724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79528542..79530620hg38UCSC Ensembl
Innerchr5:78824365..78826443hg19UCSC Ensembl
Innerchr5:78860121..78862199hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382079
hg192079
hg182079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964901
Supporting Variants
SamplesHGDP00456
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)nssv2366176
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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