A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955347



Internal ID22730555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69392020..69392020hg38UCSC Ensembl
chr1:69857703..69857703hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371206
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955347
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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