A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952978



Internal ID22728275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213791000..213791000hg38UCSC Ensembl
chr1:213964343..213964343hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350636
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952978
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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