A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2385446



Internal ID17397137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159950327..159951327hg38UCSC Ensembl
Innerchr5:159377334..159378334hg19UCSC Ensembl
Innerchr5:159309912..159310912hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969009
Supporting Variants
SamplesHGDP00521
Known GenesADRA1B
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)nssv2385446
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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