A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392930



Internal ID22450800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201166289..201166368hg38UCSC Ensembl
chr2:202031012..202031091hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896470
Supporting Variants
Samples
Known GenesCFLAR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392930
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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