A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974053



Internal ID22748988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26557749..26557749hg38UCSC Ensembl
chr22:26953715..26953715hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408936
Samples
Known GenesTPST2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974053
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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