A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215077



Internal ID22361526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:9002886..9003210hg38UCSC Ensembl
chr21:9841719..9842043hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432759, nssv14467084, nssv14407886
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215077
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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