A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2329658



Internal ID17435716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:108621771..108623750hg38UCSC Ensembl
Innerchr4:109542927..109544906hg19UCSC Ensembl
Innerchr4:109762376..109764355hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381980
hg191980
hg181980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964079
Supporting Variants
SamplesHGDP00665
Known GenesRPL34
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)nssv2329658
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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