A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4439248



Internal ID22105425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43105457..43105457hg38UCSC Ensembl
chr18:40685422..40685422hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15768259
Samples
Known GenesRIT2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4439248
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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