A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145933



Internal ID345138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16360868..16361600hg38UCSC Ensembl
chr19:16471679..16472411hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721861
Samples
Known GenesEPS15L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145933
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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