A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1894921



Internal ID17877096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:73919048..73924555hg38UCSC Ensembl
Innerchr11:73630093..73635600hg19UCSC Ensembl
Innerchr11:73307741..73313248hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg385508
hg195508
hg185508
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975948
Supporting Variants
SamplesHGDP01307
Known GenesPAAF1
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)nssv1894921
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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