A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1778142



Internal ID17814008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100646446..100656272hg38UCSC Ensembl
Innerchr1:101112002..101121828hg19UCSC Ensembl
Innerchr1:100884590..100894416hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg389827
hg199827
hg189827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946097
Supporting Variants
SamplesHGDP00927
Known GenesLOC100128787
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)nssv1778142
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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