A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2069031



Internal ID17538502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87891800..87894554hg38UCSC Ensembl
Innerchr16:87925406..87928160hg19UCSC Ensembl
Innerchr16:86482907..86485661hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg382755
hg192755
hg182755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978174
Supporting Variants
SamplesHGDP01307
Known GenesCA5A
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)nssv2069031
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