A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684224



Internal ID107890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95040224..95040275hg38UCSC Ensembl
chr12:95434000..95434051hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381151
hg191151
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559162
Supporting Variants
Samples
Known GenesNR2C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684224
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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