A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1809252



Internal ID17875868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179967192..179969520hg38UCSC Ensembl
Innerchr1:179936327..179938655hg19UCSC Ensembl
Innerchr1:178202950..178205278hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382329
hg192329
hg182329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946526
Supporting Variants
SamplesHGDP01307
Known GenesCEP350
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)nssv1809252
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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