A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1811713



Internal ID17760439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742876..196779662hg38UCSC Ensembl
Innerchr1:196712006..196748792hg19UCSC Ensembl
Innerchr1:194978629..195015415hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3836787
hg1936787
hg1836787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946555
Supporting Variants
SamplesHGDP00542
Known GenesCFH, CFHR3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1811713
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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