A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2498650



Internal ID17498421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30785765..30786265hg38UCSC Ensembl
Innerchr8:30643281..30643781hg19UCSC Ensembl
Innerchr8:30762823..30763323hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv971635
Supporting Variants
SamplesHGDP01029
Known GenesPPP2CB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2498650
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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