A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2337830



Internal ID17816112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143554531..143556705hg38UCSC Ensembl
Innerchr4:144475684..144477858hg19UCSC Ensembl
Innerchr4:144695134..144697308hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg382175
hg192175
hg182175
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964101
Supporting Variants
SamplesHGDP00927
Known GenesSMARCA5
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)nssv2337830
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