A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201129



Internal ID22350478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176617518..176617691hg38UCSC Ensembl
chr2:177482246..177482419hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296313
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201129
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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