A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2112489



Internal ID17884134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3254962..3255939hg38UCSC Ensembl
Innerchr18:3254960..3255937hg19UCSC Ensembl
Innerchr18:3244960..3245937hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38978
hg19978
hg18978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978594
Supporting Variants
SamplesHGDP01307
Known GenesMYL12A
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)nssv2112489
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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