A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433054



Internal ID21395056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225950517..225952739hg38UCSC Ensembl
chr1:226138217..226140439hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg382223
hg192223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv51n172
Supporting Variantsnssv15750426
SamplesBTQ038
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433054
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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