A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2350604



Internal ID17884294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:23526138..23527862hg38UCSC Ensembl
Innerchr5:23526247..23527971hg19UCSC Ensembl
Innerchr5:23562004..23563728hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg381725
hg191725
hg181725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964821
Supporting Variants
SamplesHGDP01307
Known GenesPRDM9
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)nssv2350604
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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