A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1800952



Internal ID17467548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157694973..157695564hg38UCSC Ensembl
Innerchr1:157664763..157665354hg19UCSC Ensembl
Innerchr1:155931387..155931978hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38592
hg19592
hg18592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946432
Supporting Variants
SamplesHGDP00927
Known GenesFCRL3
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)nssv1800952
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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