A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2529255



Internal ID17496515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37489354..37491832hg38UCSC Ensembl
Innerchr9:37489351..37491829hg19UCSC Ensembl
Innerchr9:37479351..37481829hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg382479
hg192479
hg182479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982216
Supporting Variants
SamplesHGDP01029
Known GenesPOLR1E
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)nssv2529255
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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