A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948207



Internal ID22723695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200335739..200335739hg38UCSC Ensembl
chr1:200304867..200304867hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363775
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948207
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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