A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2468111



Internal ID17743400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:84977837..84984763hg38UCSC Ensembl
Innerchr7:84607153..84614079hg19UCSC Ensembl
Innerchr7:84445089..84452015hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg386927
hg196927
hg186927
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981542
Supporting Variants
SamplesHGDP00456
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)nssv2468111
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