A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442307



Internal ID22108490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109449831..109449831hg38UCSC Ensembl
chr12:109887636..109887636hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756875
Samples
Known GenesKCTD10
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442307
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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