A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2529345



Internal ID17529885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37881691..37885803hg38UCSC Ensembl
Innerchr9:37881688..37885800hg19UCSC Ensembl
Innerchr9:37871688..37875800hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg384113
hg194113
hg184113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972315
Supporting Variants
SamplesHGDP01307
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)nssv2529345
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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