A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1782051



Internal ID17400620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111459496..111461523hg38UCSC Ensembl
Innerchr1:112002118..112004145hg19UCSC Ensembl
Innerchr1:111803641..111805668hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg382028
hg192028
hg182028
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946140
Supporting Variants
SamplesHGDP00521
Known GenesATP5F1
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)nssv1782051
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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