A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712392



Internal ID136058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28912071..28912122hg38UCSC Ensembl
chr17:27239089..27239140hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432672
Supporting Variants
Samples
Known GenesPHF12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712392
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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