A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049314



Internal ID100762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:99918000..100480500hg38UCSC Ensembl
chr11:99788732..100351231hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38562501
hg19562500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503740
Supporting Variants
Samples
Known GenesCNTN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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