A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084574



Internal ID20651614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241078122..241078851hg38UCSC Ensembl
chr2:242017537..242018266hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337901
Supporting Variants
Samples
Known GenesSNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084574
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0089


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