A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2048298



Internal ID17487851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18581957..18592750hg38UCSC Ensembl
Innerchr16:18593279..18604072hg19UCSC Ensembl
Innerchr16:18500780..18511573hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3810794
hg1910794
hg1810794
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984283
Supporting Variants
SamplesHGDP00998
Known GenesABCC6P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2048298
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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