A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930295



Internal ID22705559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8736702..8739813hg38UCSC Ensembl
chr18:8736700..8739811hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg383112
hg193112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393574
Samples
Known GenesSOGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930295
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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