A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1769390



Internal ID17449035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63261992..63262583hg38UCSC Ensembl
Innerchr1:63727663..63728254hg19UCSC Ensembl
Innerchr1:63500251..63500842hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38592
hg19592
hg18592
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945975
Supporting Variants
SamplesHGDP00778
Known GenesLINC00466
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)nssv1769390
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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