A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4437587



Internal ID22103767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49898235..49898235hg38UCSC Ensembl
chr12:50292018..50292018hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761444
Samples
Known GenesFAIM2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4437587
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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