A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720571



Internal ID144237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3369332..3369404hg38UCSC Ensembl
chr19:3369330..3369402hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144394
Supporting Variants
Samples
Known GenesNFIC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001563


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