A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425917



Internal ID204868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51333668..51333719hg38UCSC Ensembl
chr19:51836922..51836973hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724102
Samples
Known GenesVSIG10L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425917
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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