A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1803958



Internal ID17872158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161509916..161513065hg38UCSC Ensembl
Innerchr1:161479706..161482855hg19UCSC Ensembl
Innerchr1:159746330..159749479hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383150
hg193150
hg183150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946463
Supporting Variants
SamplesHGDP01284
Known GenesFCGR2A
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)nssv1803958
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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