A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2023551



Internal ID17887972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:52046030..52047121hg38UCSC Ensembl
Innerchr15:52338227..52339318hg19UCSC Ensembl
Innerchr15:50125519..50126610hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg381092
hg191092
hg181092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984070
Supporting Variants
SamplesHGDP01307
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)nssv2023551
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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