A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2475341



Internal ID17739737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111971212..111972212hg38UCSC Ensembl
Innerchr7:111611267..111612267hg19UCSC Ensembl
Innerchr7:111398503..111399503hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966877
Supporting Variants
SamplesHGDP00456
Known GenesDOCK4
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)nssv2475341
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