A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2124981



Internal ID17814776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50814660..50816570hg38UCSC Ensembl
Innerchr18:48341030..48342940hg19UCSC Ensembl
Innerchr18:46595028..46596938hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381911
hg191911
hg181911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978631
Supporting Variants
SamplesHGDP00927
Known GenesMRO
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)nssv2124981
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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