A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2383485



Internal ID17748407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:165904086..165906909hg38UCSC Ensembl
Innerchr5:165331091..165333914hg19UCSC Ensembl
Innerchr5:165263669..165266492hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg382824
hg192824
hg182824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980749
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)nssv2383485
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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