A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1779046



Internal ID17499662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93509557..93518152hg38UCSC Ensembl
Innerchr1:93975114..93983709hg19UCSC Ensembl
Innerchr1:93747702..93756297hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg388596
hg198596
hg188596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946083
Supporting Variants
SamplesHGDP01029
Known GenesFNBP1L
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)nssv1779046
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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