A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953247



Internal ID22728538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202992011..202992011hg38UCSC Ensembl
chr1:202961139..202961139hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367940
Samples
Known GenesLOC401980
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953247
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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