A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2318888



Internal ID17862040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:53985914..53987301hg38UCSC Ensembl
Innerchr4:54852081..54853468hg19UCSC Ensembl
Innerchr4:54546838..54548225hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381388
hg191388
hg181388
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966269
Supporting Variants
SamplesHGDP01284
Known GenesRPL21P44
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)nssv2318888
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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