A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196844



Internal ID20763884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30223051..30223398hg38UCSC Ensembl
chr13:30797188..30797535hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480512
Supporting Variants
Samples
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196844
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00079


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer