A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319467



Internal ID20852562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243599787..243719758hg38UCSC Ensembl
chr1:243763089..243883060hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38119972
hg19119972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059574
Samples
Known GenesAKT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319467
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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