A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2045407



Internal ID17518060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15553877..15555523hg38UCSC Ensembl
Innerchr16:15647734..15649380hg19UCSC Ensembl
Innerchr16:15555235..15556881hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg381647
hg191647
hg181647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974766
Supporting Variants
SamplesHGDP01284
Known GenesC16orf45
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)nssv2045407
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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