A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433691



Internal ID21395693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222616838..222617260hg38UCSC Ensembl
chr2:223481557..223481979hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15751517
SamplesBTQ055
Known GenesFARSB
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433691
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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