A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706618



Internal ID130284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:25247904..25247955hg38UCSC Ensembl
chr16:25259225..25259276hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423528
Supporting Variants
Samples
Known GenesZKSCAN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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