A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2024182



Internal ID17765431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:52064037..52067069hg38UCSC Ensembl
Innerchr15:52356234..52359266hg19UCSC Ensembl
Innerchr15:50143526..50146558hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg383033
hg193033
hg183033
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984071
Supporting Variants
SamplesHGDP00542
Known GenesMAPK6
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)nssv2024182
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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