A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2340384



Internal ID17854652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165011672..165014562hg38UCSC Ensembl
Innerchr4:165932824..165935714hg19UCSC Ensembl
Innerchr4:166152274..166155164hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382891
hg192891
hg182891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966336
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv2340384
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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