A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1809478



Internal ID17875878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185221973..185231245hg38UCSC Ensembl
Innerchr1:185191105..185200377hg19UCSC Ensembl
Innerchr1:183457728..183467000hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg389273
hg199273
hg189273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946540
Supporting Variants
SamplesHGDP01307
Known GenesSWT1
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)nssv1809478
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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