A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392438



Internal ID22450308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190457044..190464323hg38UCSC Ensembl
chr2:191321770..191329049hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg387280
hg197280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888904
Supporting Variants
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392438
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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