A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949816



Internal ID17298690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:126144946..126150545hg38UCSC Ensembl
Outerchr4:127066101..127071700hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996776
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949816
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