A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5932250



Internal ID22707545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17295936..17296278hg38UCSC Ensembl
chr19:17406745..17407087hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396385
Samples
Known GenesABHD8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5932250
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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