A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089763



Internal ID20656803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39988151..40025410hg38UCSC Ensembl
chr2:40215291..40252550hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3837260
hg1937260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337692
Supporting Variants
Samples
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089763
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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