A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954382



Internal ID22729627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95065227..95065227hg38UCSC Ensembl
chr1:95530783..95530783hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402793
Samples
Known GenesALG14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954382
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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