A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1779355



Internal ID17780046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:101264846..101278910hg38UCSC Ensembl
Innerchr1:101730402..101744466hg19UCSC Ensembl
Innerchr1:101502990..101517054hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3814065
hg1914065
hg1814065
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946100
Supporting Variants
SamplesHGDP00665
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)nssv1779355
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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