A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2342478



Internal ID17747231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:169744158..169746020hg38UCSC Ensembl
Innerchr4:170665309..170667171hg19UCSC Ensembl
Innerchr4:170901884..170903746hg18UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg381863
hg191863
hg181863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964113
Supporting Variants
SamplesHGDP00521
Known GenesC4orf27
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)nssv2342478
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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