A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18044030



Internal ID20611071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75422594..75423075hg38UCSC Ensembl
chr18:73134549..73135030hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6535314
Supporting Variants
Samples
Known GenesSMIM21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18044030
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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