A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144706



Internal ID343911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1876000..1882000hg38UCSC Ensembl
chr19:1875999..1881999hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720309
Samples
Known GenesABHD17A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144706
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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