A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2543596



Internal ID17810831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62470876..62479911hg38UCSC Ensembl
Innerchr9:46782177..46791212hg19UCSC Ensembl
Innerchr9:46622173..46631208hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg389036
hg199036
hg189036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv972730
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2543596
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