A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520222



Internal ID296556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11254413..11254692hg38UCSC Ensembl
chr19:11365089..11365368hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721390
Samples
Known GenesDOCK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520222
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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