A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516971



Internal ID293408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77384322..77388599hg38UCSC Ensembl
chr17:75380404..75384681hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384278
hg194278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714772
Samples
Known GenesSEPT9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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