A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227030



Internal ID22369645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6570445..6579098hg38UCSC Ensembl
chr21:44598017..44606670hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388654
hg198654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5412n152
Supporting Variantsnssv14301258, nssv14301257
SamplesHG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227030
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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