A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18009650



Internal ID20576690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51034149..51039777hg38UCSC Ensembl
chr13:51608285..51613913hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385629
hg195629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485771
Supporting Variants
Samples
Known GenesGUCY1B2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18009650
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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