A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443433



Internal ID22109616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117853981..117854033hg38UCSC Ensembl
chr2:118611557..118611609hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767002
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443433
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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