A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520210



Internal ID296544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40660196..40661839hg38UCSC Ensembl
chr17:38816448..38818091hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381644
hg191644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713118
Samples
Known GenesKRT222
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520210
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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