A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2351114



Internal ID17806917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31053527..31054235hg38UCSC Ensembl
Innerchr5:31053634..31054342hg19UCSC Ensembl
Innerchr5:31089391..31090099hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38709
hg19709
hg18709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980627
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2351114
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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