A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1958401



Internal ID17879954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29039547..29045675hg38UCSC Ensembl
Innerchr13:29613684..29619812hg19UCSC Ensembl
Innerchr13:28511684..28517812hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386129
hg196129
hg186129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983571
Supporting Variants
SamplesHGDP01307
Known GenesMTUS2
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)nssv1958401
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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