A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199244



Internal ID22348858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979838..113979914hg38UCSC Ensembl
chr2:114737415..114737491hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4748n152
Supporting Variantsnssv14292836, nssv14292834, nssv14292835
SamplesNA19238, NA19239, NA19240
Known GenesLOC100499194, LOC440900
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199244
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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