A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145386



Internal ID344591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16143143..16146969hg38UCSC Ensembl
chr19:16253953..16257779hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383827
hg193827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721840
Samples
Known GenesHSH2D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145386
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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