A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417332



Internal ID196531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19393940..19405523hg38UCSC Ensembl
chr1:19720434..19732017hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3811584
hg1911584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900042
Samples
Known GenesCAPZB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417332
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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