A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2064520



Internal ID17884458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:68475436..68478793hg38UCSC Ensembl
Innerchr16:68509339..68512696hg19UCSC Ensembl
Innerchr16:67066840..67070197hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg383358
hg193358
hg183358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977990
Supporting Variants
SamplesHGDP01307
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)nssv2064520
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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