A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521101



Internal ID297402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3711257..3718500hg38UCSC Ensembl
chr19:3711255..3718498hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387244
hg197244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720609
Samples
Known GenesTJP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521101
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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