A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215189



Internal ID20782229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181234916..181279833hg38UCSC Ensembl
chr5:180661916..180706834hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3844918
hg1944919
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413193
Supporting Variants
Samples
Known GenesGNB2L1, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM52-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215189
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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