A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055472



Internal ID104819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26776000..26785000hg38UCSC Ensembl
chr12:26928933..26937933hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg389001
hg199001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513312
Supporting Variants
Samples
Known GenesITPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055472
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000313


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