A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1805709



Internal ID17872222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161670153..161677041hg38UCSC Ensembl
Innerchr1:161639943..161646831hg19UCSC Ensembl
Innerchr1:159906567..159913455hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946470
Supporting Variants
SamplesHGDP01284
Known GenesFCGR2B
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)nssv1805709
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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