A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721945



Internal ID145611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17456891..17502212hg38UCSC Ensembl
chr19:17567700..17613021hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3845322
hg1945322
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521757
Supporting Variants
Samples
Known GenesNXNL1, SLC27A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721945
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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