A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214437



Internal ID22361097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45586996..45595801hg38UCSC Ensembl
chr21:47006910..47015715hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388806
hg198806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14302449, nssv14302448
SamplesHG00731, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214437
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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