A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964242



Internal ID22739177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31966732..31966732hg38UCSC Ensembl
chr2:32191801..32191801hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389822
Samples
Known GenesMEMO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964242
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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