A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2542748



Internal ID17753057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:41628395..41649013hg38UCSC Ensembl
Innerchr9:46097664..46118282hg19UCSC Ensembl
Innerchr9:45987660..46008278hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3820619
hg1920619
hg1820619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972726
Supporting Variants
SamplesHGDP00521
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)nssv2542748
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