A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201113



Internal ID22350463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230221852..230222044hg38UCSC Ensembl
chr1:230357598..230357790hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14312404
SamplesHG00513
Known GenesGALNT2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201113
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