A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434598



Internal ID21396600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180948932..181003764hg38UCSC Ensembl
chr5:180375932..180430764hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3854833
hg1954833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv670n172
Supporting Variantsnssv15749954
SamplesSMI034
Known GenesBTNL3, BTNL8
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434598
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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