A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525248



Internal ID301418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20819065..20820934hg38UCSC Ensembl
chr17:20722378..20724247hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381870
hg191870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712118
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525248
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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