A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449584



Internal ID22115761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80601323..80602472hg38UCSC Ensembl
chr17:78575123..78576272hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15762714
Samples
Known GenesRPTOR
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SUBSDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449584
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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