A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646931



Internal ID21595236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30270503..30270503hg38UCSC Ensembl
chr13:30844640..30844640hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092409
SamplesHG03125
Known GenesKATNAL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646931
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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