A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748729



Internal ID21389939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180948201..181003600hg38UCSC Ensembl
chr5:180375201..180430600hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3855400
hg1955400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4434597
Supporting Variants
SamplesNB10
Known GenesBTNL3, BTNL8
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748729
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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