A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147434



Internal ID346615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:824586..911000hg38UCSC Ensembl
chr19:824586..911000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3886415
hg1986415
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720141
Samples
Known GenesAZU1, CFD, ELANE, MED16, PRTN3, R3HDM4
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147434
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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