A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535328



Internal ID310978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30459610..30459647hg38UCSC Ensembl
chr17:28786628..28786665hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712480
Samples
Known GenesCPD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535328
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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