A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209652



Internal ID22357693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234609691..234651931hg38UCSC Ensembl
Outerchr2:235518335..235560575hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3842241
hg1942241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5052n152
Supporting Variantsnssv14265420, nssv14265421
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209652
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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