A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555492



Internal ID328648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51635800..51635851hg38UCSC Ensembl
chr17:49713161..49713212hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713616
Samples
Known GenesCA10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555492
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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