A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18073345



Internal ID20640385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44922883..44923357hg38UCSC Ensembl
chr21:46342798..46343272hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6542741
Supporting Variants
Samples
Known GenesITGB2, ITGB2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18073345
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00045


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