A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2530502



Internal ID17525305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37885803..37886803hg38UCSC Ensembl
Innerchr9:37885800..37886800hg19UCSC Ensembl
Innerchr9:37875800..37876800hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv968615
Supporting Variants
SamplesHGDP01284
Known GenesSLC25A51
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2530502
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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