A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558750



Internal ID331806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42695512..42695563hg38UCSC Ensembl
chr17:40847530..40847581hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724528
Samples
Known GenesCNTNAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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