A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2345044



Internal ID17881006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5394865..5396925hg38UCSC Ensembl
Innerchr5:5394978..5397038hg19UCSC Ensembl
Innerchr5:5447978..5450038hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg382061
hg192061
hg182061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968870
Supporting Variants
SamplesHGDP01307
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)nssv2345044
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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