A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1959817



Internal ID17465416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40807240..40810757hg38UCSC Ensembl
Innerchr13:41381376..41384893hg19UCSC Ensembl
Innerchr13:40279376..40282893hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383518
hg193518
hg183518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974082
Supporting Variants
SamplesHGDP00927
Known GenesSLC25A15, TPTE2P5
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)nssv1959817
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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