A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302829



Internal ID22274773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41835829..41835829hg38UCSC Ensembl
chr21:43255938..43255938hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562397
Supporting Variants
SamplesNA19239
Known GenesPRDM15
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302829
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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