A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2340860



Internal ID17430045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165277344..165279814hg38UCSC Ensembl
Innerchr4:166198496..166200966hg19UCSC Ensembl
Innerchr4:166417946..166420416hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382471
hg192471
hg182471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967810
Supporting Variants
SamplesHGDP00542
Known GenesGK3P, KLHL2
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)nssv2340860
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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