A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970894



Internal ID22745829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29550091..29550091hg38UCSC Ensembl
chr21:30922412..30922412hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390923
Samples
Known GenesGRIK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970894
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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