A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517758



Internal ID294172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27940177..27940312hg38UCSC Ensembl
chr17:26267203..26267338hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712320
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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