A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16282299



Internal ID20491517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44387687..44387770hg38UCSC Ensembl
chr17:42465055..42465138hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4741238
Supporting Variants
Samples
Known GenesITGA2B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16282299
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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