A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523634



Internal ID20896995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5701163..5722763hg38UCSC Ensembl
chr19:5701174..5722774hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3821601
hg1921601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199692
Samples
Known GenesCATSPERD, LONP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523634
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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