A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17726530



Internal ID150196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29560561..29560594hg38UCSC Ensembl
chr21:30932882..30932915hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548860
Supporting Variants
Samples
Known GenesGRIK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17726530
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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