A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089783



Internal ID20656823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40384401..40387700hg38UCSC Ensembl
chr2:40611541..40614840hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338512
Supporting Variants
Samples
Known GenesSLC8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089783
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00079


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