A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2122226



Internal ID17818208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32411734..32413098hg38UCSC Ensembl
Innerchr18:29991697..29993061hg19UCSC Ensembl
Innerchr18:28245695..28247059hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381365
hg191365
hg181365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961041
Supporting Variants
SamplesHGDP00927
Known GenesGAREM
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)nssv2122226
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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