A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208137



Internal ID22356426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238633800..238633858hg38UCSC Ensembl
chr2:239542441..239542499hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5078n152
Supporting Variantsnssv14432665
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208137
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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