A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2371736



Internal ID17750389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111191693..111193308hg38UCSC Ensembl
Innerchr5:110527391..110529006hg19UCSC Ensembl
Innerchr5:110555290..110556905hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg381616
hg191616
hg181616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968231
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)nssv2371736
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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