A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2520474



Internal ID17526366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:3364349..3365736hg38UCSC Ensembl
Innerchr9:3364349..3365736hg19UCSC Ensembl
Innerchr9:3354349..3355736hg18UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg381388
hg191388
hg181388
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972292
Supporting Variants
SamplesHGDP01284
Known GenesRFX3
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)nssv2520474
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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