A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690060



Internal ID113726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95715034..95715085hg38UCSC Ensembl
chr12:96108812..96108863hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560418
Supporting Variants
Samples
Known GenesNTN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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