A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6491488



Internal ID21149041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70098811..70103385hg38UCSC Ensembl
chr13:70672943..70677517hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg384575
hg194575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18012526
Samples
Known GenesKLHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6491488
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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