A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2052619



Internal ID17851928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21730229..21754816hg38UCSC Ensembl
Innerchr16:21741550..21766137hg19UCSC Ensembl
Innerchr16:21649051..21673638hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3824588
hg1924588
hg1824588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv977936
Supporting Variants
SamplesHGDP01029
Known GenesOTOA
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)nssv2052619
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