A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2339404



Internal ID17819358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:159025576..159027235hg38UCSC Ensembl
Innerchr4:159946728..159948387hg19UCSC Ensembl
Innerchr4:160166178..160167837hg18UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg381660
hg191660
hg181660
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966332
Supporting Variants
SamplesHGDP00927
Known GenesC4orf45
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)nssv2339404
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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