A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052019



Internal ID20619059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154263801..154266900hg38UCSC Ensembl
chr1:154236277..154239376hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322706
Supporting Variants
Samples
Known GenesUBAP2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052019
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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