A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1879175



Internal ID17416801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:19055386..19056079hg38UCSC Ensembl
Innerchr11:19076933..19077626hg19UCSC Ensembl
Innerchr11:19033509..19034202hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38694
hg19694
hg18694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975890
Supporting Variants
SamplesHGDP00542
Known GenesMRGPRX2
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)nssv1879175
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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