A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2390542



Internal ID17523733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178039501..178040633hg38UCSC Ensembl
Innerchr5:177466502..177467634hg19UCSC Ensembl
Innerchr5:177399108..177400240hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381133
hg191133
hg181133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv969026
Supporting Variants
SamplesHGDP01284
Known GenesFAM153C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2390542
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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