A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4446281



Internal ID22112460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48270647..48270647hg38UCSC Ensembl
chr15:48562844..48562844hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15758008
Samples
Known GenesSLC12A1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4446281
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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