A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327970



Internal ID20861114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223642101..223644400hg38UCSC Ensembl
chr1:223829803..223832102hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18057676
Samples
Known GenesCAPN8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327970
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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