A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2530582



Internal ID17525555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37886803..37889873hg38UCSC Ensembl
Innerchr9:37886800..37889870hg19UCSC Ensembl
Innerchr9:37876800..37879870hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg383071
hg193071
hg183071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968616
Supporting Variants
SamplesHGDP01284
Known GenesSLC25A51
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)nssv2530582
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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