A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1778461



Internal ID17391574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92834727..92836412hg38UCSC Ensembl
Innerchr1:93300284..93301969hg19UCSC Ensembl
Innerchr1:93072872..93074557hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381686
hg191686
hg181686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946077
Supporting Variants
SamplesHGDP00456
Known GenesFAM69A, RPL5
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)nssv1778461
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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