A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4442259



Internal ID22108442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124839644..124839644hg38UCSC Ensembl
chr12:125324190..125324190hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761251
Samples
Known GenesSCARB1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4442259
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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