A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049762



Internal ID101070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:88506974..88507025hg38UCSC Ensembl
chr11:88240142..88240193hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395283
Supporting Variants
Samples
Known GenesGRM5, GRM5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.043553


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