A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2358722



Internal ID17884404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:64224392..64227617hg38UCSC Ensembl
Innerchr5:63520219..63523444hg19UCSC Ensembl
Innerchr5:63555975..63559200hg18UCSC Ensembl
Cytoband5q12.2
Allele length
AssemblyAllele length
hg383226
hg193226
hg183226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968183
Supporting Variants
SamplesHGDP01307
Known GenesRNF180
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)nssv2358722
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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