A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205031



Internal ID22353790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219159513..219159588hg38UCSC Ensembl
chr2:220024235..220024310hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4995n152
Supporting Variantsnssv14296056, nssv14296057, nssv14296058, nssv14296055
SamplesHG00512, HG00732, HG00733, HG00514
Known GenesNHEJ1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205031
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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