A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712320



Internal ID135986
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 StatusS
Merged Variantsnsv5517758
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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