A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392094



Internal ID22449964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230699709..230702921hg38UCSC Ensembl
chr2:231564424..231567636hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383213
hg193213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906655
Supporting Variants
Samples
Known GenesLOC151475
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392094
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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