A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957434



Internal ID22732552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171635965..171635965hg38UCSC Ensembl
chr3:171353755..171353755hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17414403
Samples
Known GenesPLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957434
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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