A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2557952



Internal ID17813123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:92676645..92678148hg38UCSC Ensembl
Innerchr9:95438927..95440430hg19UCSC Ensembl
Innerchr9:94478748..94480251hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg381504
hg191504
hg181504
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972419
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2557952
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer