A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212930



Internal ID22360031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32427859..32433796hg38UCSC Ensembl
chr21:33800167..33806104hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg385938
hg195938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301861
SamplesHG00731
Known GenesEVA1C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212930
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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