A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4443323



Internal ID22109506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137686873..137688197hg38UCSC Ensembl
chr5:137022562..137023886hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381325
hg191325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15764253
Samples
Known GenesKLHL3
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4443323
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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