A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957646



Internal ID22732760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186837752..186837752hg38UCSC Ensembl
chr1:186806884..186806884hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364217
Samples
Known GenesPLA2G4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957646
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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