A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2519164



Internal ID17425330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:10001..32355hg38UCSC Ensembl
Innerchr9:10001..32355hg19UCSC Ensembl
Innerchr9:1..22355hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3822355
hg1922355
hg1822355
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv982187
Supporting Variants
SamplesHGDP00542
Known GenesDDX11L5, WASH1
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)nssv2519164
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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