A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18130459



Internal ID20697499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42588433..42603393hg38UCSC Ensembl
chr5:42588535..42603495hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3814961
hg1914961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6377231
Supporting Variants
Samples
Known GenesGHR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18130459
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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