A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1821108



Internal ID17793763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223888517..223940997hg38UCSC Ensembl
Innerchr1:224076219..224128699hg19UCSC Ensembl
Innerchr1:222142842..222195322hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3852481
hg1952481
hg1852481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945314
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv1821108
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