A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18007894



Internal ID20574935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30262625..30263147hg38UCSC Ensembl
chr13:30836762..30837284hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482361
Supporting Variants
Samples
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18007894
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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