A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18129472



Internal ID20696512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167302742..167303557hg38UCSC Ensembl
chr5:166729747..166730562hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411991
Supporting Variants
Samples
Known GenesTENM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18129472
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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