A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2553692



Internal ID17868907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:80563690..80566362hg38UCSC Ensembl
Innerchr9:83178605..83181277hg19UCSC Ensembl
Innerchr9:82368425..82371097hg18UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg382673
hg192673
hg182673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972762
Supporting Variants
SamplesHGDP01284
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)nssv2553692
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