A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1811131



Internal ID17529254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184823886..184825703hg38UCSC Ensembl
Innerchr1:184793020..184794837hg19UCSC Ensembl
Innerchr1:183059643..183061460hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381818
hg191818
hg181818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946539
Supporting Variants
SamplesHGDP01307
Known GenesFAM129A
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)nssv1811131
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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