A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2061947



Internal ID17474108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48576836..48578169hg38UCSC Ensembl
Innerchr16:48610747..48612080hg19UCSC Ensembl
Innerchr16:47168248..47169581hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381334
hg191334
hg181334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974813
Supporting Variants
SamplesHGDP00927
Known GenesN4BP1
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)nssv2061947
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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