A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2446841



Internal ID17852095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:55645783..55646880hg38UCSC Ensembl
Innerchr7:55713476..55714573hg19UCSC Ensembl
Innerchr7:55680970..55682067hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg381098
hg191098
hg181098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981472
Supporting Variants
SamplesHGDP01029
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)nssv2446841
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