A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4440102



Internal ID22106280
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 StatusM
Merged Variants
Supporting Variantsnssv15761545
Samples
Known GenesCAPN12
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=CONTRAC
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4440102
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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