A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144593



Internal ID343798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10376226..10394820hg38UCSC Ensembl
chr19:10486902..10505496hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3818595
hg1918595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721313
Samples
Known GenesCDC37, TYK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144593
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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