A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1816227



Internal ID17388742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206907521..206910168hg38UCSC Ensembl
Innerchr1:207080866..207083513hg19UCSC Ensembl
Innerchr1:205147489..205150136hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382648
hg192648
hg182648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946617
Supporting Variants
SamplesHGDP00456
Known GenesFAIM3
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)nssv1816227
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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