A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690886



Internal ID114552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124565621..124565700hg38UCSC Ensembl
chr12:125050167..125050246hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498134
Supporting Variants
Samples
Known GenesNCOR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690886
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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