A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16286586



Internal ID20495804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30270034..30270261hg38UCSC Ensembl
chr13:30844171..30844398hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4731094
Supporting Variants
Samples
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16286586
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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