A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18077279



Internal ID20644319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142243232..142243750hg38UCSC Ensembl
chr2:143000801..143001319hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339367
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18077279
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0006


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