A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2063780



Internal ID17882918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:64736179..64737483hg38UCSC Ensembl
Innerchr16:64770082..64771386hg19UCSC Ensembl
Innerchr16:63327583..63328887hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg381305
hg191305
hg181305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984341
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)nssv2063780
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer