A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444546



Internal ID22110726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212763553..212763623hg38UCSC Ensembl
chr2:213628277..213628347hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15756601
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444546
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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