A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2383901



Internal ID17499705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150446212..150447914hg38UCSC Ensembl
Innerchr5:149825775..149827477hg19UCSC Ensembl
Innerchr5:149805968..149807670hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381703
hg191703
hg181703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980744
Supporting Variants
SamplesHGDP01029
Known GenesRPS14
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)nssv2383901
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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