A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6044855



Internal ID21954133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47717706..47718073hg38UCSC Ensembl
chr19:48220963..48221330hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17619463
Samples
Known GenesEHD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6044855
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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