A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711046



Internal ID134712
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 StatusS
Merged Variantsnsv5518444
Supporting Variants
Samples
Known GenesRABEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711046
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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