A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2362925



Internal ID17880487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73020215..73020901hg38UCSC Ensembl
Innerchr5:72316042..72316728hg19UCSC Ensembl
Innerchr5:72351798..72352484hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38687
hg19687
hg18687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980683
Supporting Variants
SamplesHGDP01307
Known GenesFCHO2
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)nssv2362925
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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