A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562123



Internal ID22430883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44971105..44971105hg38UCSC Ensembl
chr21:46391020..46391020hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301722
SamplesNA19240
Known GenesFAM207A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562123
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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