A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688417



Internal ID112083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:86402140..86406737hg38UCSC Ensembl
chr11:86113182..86117779hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg384598
hg194598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501988
Supporting Variants
Samples
Known GenesCCDC81
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688417
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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