A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302520



Internal ID22208192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45939351..45943250hg38UCSC Ensembl
chr21:47359265..47363164hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228272
Supporting Variants
SamplesHG00732
Known GenesPCBP3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302520
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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