A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2065655



Internal ID17770289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69172186..69179504hg38UCSC Ensembl
Innerchr16:69206089..69213407hg19UCSC Ensembl
Innerchr16:67763590..67770908hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg387319
hg197319
hg187319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984344
Supporting Variants
SamplesHGDP00542
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)nssv2065655
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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