A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2121292



Internal ID17729386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31755874..31760831hg38UCSC Ensembl
Innerchr18:29335837..29340794hg19UCSC Ensembl
Innerchr18:27589835..27594792hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384958
hg194958
hg184958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960273
Supporting Variants
SamplesHGDP00456
Known GenesSLC25A52
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)nssv2121292
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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