A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2339980



Internal ID17880790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:158277710..158280238hg38UCSC Ensembl
Innerchr4:159198862..159201390hg19UCSC Ensembl
Innerchr4:159418312..159420840hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg382529
hg192529
hg182529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967804
Supporting Variants
SamplesHGDP01307
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)nssv2339980
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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