A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1809643



Internal ID17826307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:181422857..181424168hg38UCSC Ensembl
Innerchr1:181391993..181393304hg19UCSC Ensembl
Innerchr1:179658616..179659927hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381312
hg191312
hg181312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946530
Supporting Variants
SamplesHGDP00998
Known Genes
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)nssv1809643
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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