A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2329750



Internal ID17485573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:108625015..108625922hg38UCSC Ensembl
Innerchr4:109546171..109547078hg19UCSC Ensembl
Innerchr4:109765620..109766527hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38908
hg19908
hg18908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980238
Supporting Variants
SamplesHGDP00998
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)nssv2329750
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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