A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2123932



Internal ID17820760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49822995..49827430hg38UCSC Ensembl
Innerchr18:47349365..47353800hg19UCSC Ensembl
Innerchr18:45603363..45607798hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384436
hg194436
hg184436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960280
Supporting Variants
SamplesHGDP00927
Known GenesMYO5B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2123932
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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