A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947785



Internal ID22723285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185593051..185593051hg38UCSC Ensembl
chr1:185562183..185562183hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365298
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947785
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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