A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480512



Internal ID21138065
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 StatusM
Merged Variants
Supporting Variantsnssv18196844
Samples
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480512
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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