A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2376156



Internal ID17808517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:125265170..125266351hg38UCSC Ensembl
Innerchr5:124600863..124602044hg19UCSC Ensembl
Innerchr5:124628762..124629943hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381182
hg191182
hg181182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964934
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)nssv2376156
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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