A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517546



Internal ID20890907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3742712..3764756hg38UCSC Ensembl
chr19:3742710..3764754hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3822045
hg1922045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18046649
Samples
Known GenesAPBA3, MRPL54, TJP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517546
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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