A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2508694



Internal ID17783361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:73045325..73051186hg38UCSC Ensembl
Innerchr8:73957560..73963421hg19UCSC Ensembl
Innerchr8:74120114..74125975hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg385862
hg195862
hg185862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971322
Supporting Variants
SamplesHGDP00665
Known GenesTERF1
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)nssv2508694
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