A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723384



Internal ID147050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40171920..40325062hg38UCSC Ensembl
chr19:40677827..40830969hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38153143
hg19153143
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558284
Supporting Variants
Samples
Known GenesAKT2, C19orf47, CNTD2, MAP3K10, MIR641, TTC9B
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723384
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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