A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522000



Internal ID298274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38406121..38413224hg38UCSC Ensembl
chr17:36562374..36569467hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387104
hg197094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712966
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522000
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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