A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1821433



Internal ID17843386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226436922..226439358hg38UCSC Ensembl
Innerchr1:226624623..226627059hg19UCSC Ensembl
Innerchr1:224691246..224693682hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg382437
hg192437
hg182437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945332
Supporting Variants
SamplesHGDP01029
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)nssv1821433
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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