A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1958992



Internal ID17826805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40749019..40759005hg38UCSC Ensembl
Innerchr13:41323155..41333141hg19UCSC Ensembl
Innerchr13:40221155..40231141hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg389987
hg199987
hg189987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976107
Supporting Variants
SamplesHGDP00998
Known GenesMRPS31
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)nssv1958992
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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