A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1784306



Internal ID17879786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119116161..119127878hg38UCSC Ensembl
Innerchr1:119658784..119670501hg19UCSC Ensembl
Innerchr1:119460307..119472024hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3811718
hg1911718
hg1811718
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946174
Supporting Variants
SamplesHGDP01307
Known GenesWARS2
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)nssv1784306
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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