A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4439968



Internal ID22106145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74269352..74269352hg38UCSC Ensembl
chr18:71936587..71936587hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15764678
Samples
Known GenesCYB5A
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4439968
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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