A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15759258



Internal ID22093734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24365677..24365677hg38UCSC Ensembl
chr12:24518611..24518611hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4449569
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15759258
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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