A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2290708



Internal ID17753178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:94506814..94507314hg38UCSC Ensembl
Innerchr3:94225658..94226158hg19UCSC Ensembl
Innerchr3:95708348..95708848hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967039
Supporting Variants
SamplesHGDP00521
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2290708
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