A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723246



Internal ID146912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38269779..38269816hg38UCSC Ensembl
chr19:38760419..38760456hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545092
Supporting Variants
Samples
Known GenesSPINT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723246
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.128528


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