A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443645



Internal ID22109826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134130641..134130762hg38UCSC Ensembl
chr2:134888212..134888333hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15757297
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443645
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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