A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1784630



Internal ID17879798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118606270..118615303hg38UCSC Ensembl
Innerchr1:119148893..119157926hg19UCSC Ensembl
Innerchr1:118950416..118959449hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg389034
hg199034
hg189034
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946172
Supporting Variants
SamplesHGDP01307
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)nssv1784630
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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