A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443301



Internal ID22109484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105209434..105211969hg38UCSC Ensembl
chr2:105825891..105828426hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382536
hg192536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766671
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443301
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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