A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050774



Internal ID101726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130095880..130095971hg38UCSC Ensembl
chr11:129965775..129965866hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496162
Supporting Variants
Samples
Known GenesAPLP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050774
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003746


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