A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712548



Internal ID136214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31048215..31048342hg38UCSC Ensembl
chr17:29375233..29375360hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532514
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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