A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935442



Internal ID22710784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36140368..36144022hg38UCSC Ensembl
chr19:36631270..36634924hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg383655
hg193655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399101
Samples
Known GenesCAPNS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935442
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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