A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15761545



Internal ID22096038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38743329..38743401hg38UCSC Ensembl
chr19:39233969..39234041hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4440102
Supporting Variants
Samples
Known GenesCAPN12
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15761545
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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