A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724102



Internal ID147768
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 StatusS
Merged Variantsnsv5425917
Supporting Variants
Samples
Known GenesVSIG10L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724102
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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