A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301722



Internal ID22323056
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562123
Supporting Variants
SamplesNA19240
Known GenesFAM207A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301722
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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