A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18078159



Internal ID20645199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144718201..144719400hg38UCSC Ensembl
chr2:145475768..145476967hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346028
Supporting Variants
Samples
Known GenesTEX41
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18078159
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00049


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