A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301962



Internal ID22120497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36257656..36257726hg38UCSC Ensembl
chr21:37629954..37630024hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223418
Supporting Variants
SamplesHG00512
Known GenesDOPEY2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301962
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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