A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954056



Internal ID17302930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:49652864..49712363hg38UCSC Ensembl
Outerchr20:48269401..48328900hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3859500
hg1959500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999992
SamplesBILGI_BIOE
Known GenesB4GALT5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954056
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer