A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955287



Internal ID17304160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240345384..240402983hg38UCSC Ensembl
Outerchr2:241284801..241342400hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3857600
hg1957600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001307
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955287
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