A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1894565



Internal ID17844922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71566578..71569629hg38UCSC Ensembl
Innerchr11:71277624..71280675hg19UCSC Ensembl
Innerchr11:70955272..70958323hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383052
hg193052
hg183052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975200
Supporting Variants
SamplesHGDP01029
Known GenesKRTAP5-10
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)nssv1894565
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