A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201523



Internal ID22350818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57780942..57781507hg38UCSC Ensembl
chr2:58008077..58008642hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14289802, nssv14289804, nssv14289803
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201523
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