A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2336740



Internal ID17442174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:151100977..151107733hg38UCSC Ensembl
Innerchr4:152022129..152028885hg19UCSC Ensembl
Innerchr4:152241579..152248335hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg386757
hg196757
hg186757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964104
Supporting Variants
SamplesHGDP00665
Known GenesRPS3A, SNORD73A
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)nssv2336740
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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