A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423424



Internal ID202445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56997866..56997917hg38UCSC Ensembl
chr17:55075227..55075278hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724830
Samples
Known GenesSCPEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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