A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948394



Internal ID22723877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238953415..238953415hg38UCSC Ensembl
chr1:239116715..239116715hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363713
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948394
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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