A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6095898



Internal ID22005131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30203815..30203815hg38UCSC Ensembl
chr13:30777952..30777952hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383081
hg193081
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17598851
Samples
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6095898
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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