A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2378207



Internal ID17878069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134415068..134427840hg38UCSC Ensembl
Innerchr5:133750759..133763531hg19UCSC Ensembl
Innerchr5:133778658..133791430hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3812773
hg1912773
hg1812773
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968244
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)nssv2378207
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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