A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2068387



Internal ID17817468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74325962..74373747hg38UCSC Ensembl
Innerchr16:74359860..74407645hg19UCSC Ensembl
Innerchr16:72917361..72965146hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3847786
hg1947786
hg1847786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974833
Supporting Variants
SamplesHGDP00927
Known GenesLOC283922
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)nssv2068387
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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