A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2522748



Internal ID17745799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:9090657..9091667hg38UCSC Ensembl
Innerchr9:9090657..9091667hg19UCSC Ensembl
Innerchr9:9080657..9081667hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg381011
hg191011
hg181011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972648
Supporting Variants
SamplesHGDP00521
Known GenesPTPRD
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)nssv2522748
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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