A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2339302



Internal ID17782427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:164377435..164380227hg38UCSC Ensembl
Innerchr4:165298587..165301379hg19UCSC Ensembl
Innerchr4:165518037..165520829hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382793
hg192793
hg182793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964108
Supporting Variants
SamplesHGDP00665
Known GenesMARCH1
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)nssv2339302
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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