A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4438443



Internal ID22104623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41946842..41946842hg38UCSC Ensembl
chr17:40103096..40103096hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384237
hg194237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15755844
Samples
Known GenesTTC25
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4438443
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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