A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940874



Internal ID22716288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39189232..39189785hg38UCSC Ensembl
chr17:37345485..37346038hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386588
Samples
Known GenesCACNB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940874
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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