A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441123



Internal ID22107302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36505307..36505561hg38UCSC Ensembl
chr2:36732450..36732704hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15765152
Samples
Known GenesCRIM1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441123
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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