A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2347954



Internal ID17808565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:16901503..16905149hg38UCSC Ensembl
Innerchr5:16901612..16905258hg19UCSC Ensembl
Innerchr5:16954612..16958258hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg383647
hg193647
hg183647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968877
Supporting Variants
SamplesHGDP00778
Known GenesMYO10
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)nssv2347954
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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