A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1896529



Internal ID17744160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:76349867..76354070hg38UCSC Ensembl
Innerchr11:76060911..76065114hg19UCSC Ensembl
Innerchr11:75738559..75742762hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg384204
hg194204
hg184204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975204
Supporting Variants
SamplesHGDP00521
Known GenesPRKRIR
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)nssv1896529
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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