A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623728



Internal ID21572033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40126501..40126501hg38UCSC Ensembl
chr2:40353641..40353641hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg382496
hg192496
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114312
SamplesHG03732
Known GenesSLC8A1, SLC8A1-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623728
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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