A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954921



Internal ID22706000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159963288..159963288hg38UCSC Ensembl
chr5:159390295..159390295hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426944
Samples
Known GenesADRA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954921
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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