A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17037486



Internal ID92745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70885972..70886023hg38UCSC Ensembl
chr10:72645729..72645780hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399922
Supporting Variants
Samples
Known GenesPCBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17037486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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