A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17039211



Internal ID93870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114644049..114644075hg38UCSC Ensembl
chr10:116403808..116403834hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550744
Supporting Variants
Samples
Known GenesABLIM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17039211
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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