A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052131



Internal ID20619171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145939897..145942142hg38UCSC Ensembl
chr1:145492946..145495194hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382246
hg192249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318695
Supporting Variants
Samples
Known GenesLIX1L, LOC100288142, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052131
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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