A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2362765



Internal ID17740447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70798947..70901540hg38UCSC Ensembl
Innerchr5:70094774..70197367hg19UCSC Ensembl
Innerchr5:70130530..70233123hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38102594
hg19102594
hg18102594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv980676
Supporting Variants
SamplesHGDP00456
Known GenesSERF1A, SERF1B, SMA4
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)nssv2362765
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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