A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200502



Internal ID22349942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239914657..239914771hg38UCSC Ensembl
chr2:240854074..240854188hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298074, nssv14298069, nssv14298072, nssv14465716, nssv14298070, nssv14298071, nssv14298073, nssv14298068, nssv14432685
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200502
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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