A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748213



Internal ID21391674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30534607..30535064hg38UCSC Ensembl
chr8:30392124..30392581hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4435487
Supporting Variants
SamplesSMI018
Known GenesRBPMS
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748213
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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