A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15764503



Internal ID22098974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41453906..41453906hg38UCSC Ensembl
chr12:41847708..41847708hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4437533
Supporting Variants
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15764503
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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