A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030278



Internal ID21939621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44388477..44388537hg38UCSC Ensembl
chr17:42465845..42465905hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17629590
Samples
Known GenesITGA2B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030278
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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