A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2339780



Internal ID17775455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165219630..165233334hg38UCSC Ensembl
Innerchr4:166140782..166154486hg19UCSC Ensembl
Innerchr4:166360232..166373936hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3813705
hg1913705
hg1813705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv980271
Supporting Variants
SamplesHGDP00542
Known GenesKLHL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2339780
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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