A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2124007



Internal ID17865978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49836302..49837515hg38UCSC Ensembl
Innerchr18:47362672..47363885hg19UCSC Ensembl
Innerchr18:45616670..45617883hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381214
hg191214
hg181214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv978630
Supporting Variants
SamplesHGDP01284
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)nssv2124007
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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