A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2120831



Internal ID17381294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:20930938..20951677hg38UCSC Ensembl
Innerchr18:18510899..18531638hg19UCSC Ensembl
Innerchr18:16764721..16785636hg18UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg3820740
hg1920740
hg1820916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960269
Supporting Variants
SamplesHGDP00456
Known GenesROCK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2120831
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