A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967530



Internal ID22742465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75091476..75091476hg38UCSC Ensembl
chr1:75557160..75557160hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384716
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967530
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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