A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521172



Internal ID297468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74702579..74702649hg38UCSC Ensembl
chr17:72698718..72698788hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714569
Samples
Known GenesCD300LF, RAB37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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