A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518444



Internal ID294832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5304784..5306226hg38UCSC Ensembl
chr17:5208079..5209521hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711046
Samples
Known GenesRABEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518444
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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