A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970256



Internal ID22745191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32650227..32650227hg38UCSC Ensembl
chr22:33046213..33046213hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391682
Samples
Known GenesSYN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970256
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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