A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052552



Internal ID102887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114531615..114535975hg38UCSC Ensembl
chr11:114402337..114406697hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg384361
hg194361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495680
Supporting Variants
Samples
Known GenesNXPE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052552
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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