A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1843220



Internal ID17389874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:43183436..43185259hg38UCSC Ensembl
Innerchr10:43678884..43680707hg19UCSC Ensembl
Innerchr10:42998890..43000713hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381824
hg191824
hg181824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947896
Supporting Variants
SamplesHGDP00456
Known GenesCSGALNACT2
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)nssv1843220
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