A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15758758



Internal ID22093232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113286417..113286417hg38UCSC Ensembl
chr12:113724222..113724222hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4442060
Supporting Variants
Samples
Known GenesTPCN1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15758758
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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