A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1768731



Internal ID17779076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53973241..53976270hg38UCSC Ensembl
Innerchr1:54438914..54441943hg19UCSC Ensembl
Innerchr1:54211502..54214531hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383030
hg193030
hg183030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945956
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)nssv1768731
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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