A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1896629



Internal ID17867996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77312929..77316286hg38UCSC Ensembl
Innerchr11:77023974..77027331hg19UCSC Ensembl
Innerchr11:76701622..76704979hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg383358
hg193358
hg183358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975950
Supporting Variants
SamplesHGDP01284
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)nssv1896629
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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