A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2066573



Internal ID17387896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70329516..70333591hg38UCSC Ensembl
Innerchr16:70363419..70367494hg19UCSC Ensembl
Innerchr16:68920920..68924995hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384076
hg194076
hg184076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977994
Supporting Variants
SamplesHGDP00456
Known GenesDDX19B, LOC100506083
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)nssv2066573
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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