A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2351277



Internal ID17749077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:26669629..26671393hg38UCSC Ensembl
Innerchr5:26669738..26671502hg19UCSC Ensembl
Innerchr5:26705495..26707259hg18UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg381765
hg191765
hg181765
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964825
Supporting Variants
SamplesHGDP00521
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)nssv2351277
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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