A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4448360



Internal ID22114538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979981..113979981hg38UCSC Ensembl
chr2:114737558..114737558hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15765246
Samples
Known GenesLOC100499194, LOC440900
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=DUP
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4448360
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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