A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2045618



Internal ID17407392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15359178..15382257hg38UCSC Ensembl
Innerchr16:15453035..15476114hg19UCSC Ensembl
Innerchr16:15360536..15383615hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3823080
hg1923080
hg1823080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984269
Supporting Variants
SamplesHGDP00521
Known GenesNPIPA5
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)nssv2045618
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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