A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395311



Internal ID22453181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178226268..178226317hg38UCSC Ensembl
chr2:179090995..179091044hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906064
Supporting Variants
Samples
Known GenesOSBPL6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395311
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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