A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2072121



Internal ID17800111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:90116464..90177882hg38UCSC Ensembl
Innerchr16:90182872..90244290hg19UCSC Ensembl
Innerchr16:88710373..88771791hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3861419
hg1961419
hg1861419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978181
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2072121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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