A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549984



Internal ID323588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57969305..57969305hg38UCSC Ensembl
chr17:56046666..56046666hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713785
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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