A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2068247



Internal ID17515398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:72054423..72084772hg38UCSC Ensembl
Innerchr16:72088322..72118671hg19UCSC Ensembl
Innerchr16:70645823..70676172hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3830350
hg1930350
hg1830350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978167
Supporting Variants
SamplesHGDP01284
Known GenesHP, HPR
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)nssv2068247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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