A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958618



Internal ID22733681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177396942..177396942hg38UCSC Ensembl
chr2:178261670..178261670hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402473
Samples
Known GenesAGPS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958618
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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