A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955068



Internal ID16957255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:221523589..221523842hg38UCSC Ensembl
Outerchr2:222388309..222388562hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003842
SamplesBILGI_BIOE
Known GenesEPHA4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955068
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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