A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2066370



Internal ID17771727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70210109..70252212hg38UCSC Ensembl
Innerchr16:70244012..70286115hg19UCSC Ensembl
Innerchr16:68801513..68843616hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3842104
hg1942104
hg1842104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978165
Supporting Variants
SamplesHGDP00542
Known GenesEXOSC6, LOC100506060
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)nssv2066370
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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