A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4439575



Internal ID22105753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52672314..52672314hg38UCSC Ensembl
chr6:52537112..52537112hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15758593
Samples
Known GenesTMEM14A
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4439575
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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