A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1904601



Internal ID17523392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:112088953..112096507hg38UCSC Ensembl
Innerchr11:111959677..111967231hg19UCSC Ensembl
Innerchr11:111464887..111472441hg18UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg387555
hg197555
hg187555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975979
Supporting Variants
SamplesHGDP01284
Known GenesSDHD
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)nssv1904601
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