A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16290239



Internal ID20499457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230497457..230497519hg38UCSC Ensembl
chr2:231362172..231362234hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4741502
Supporting Variants
Samples
Known GenesSP100
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16290239
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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