A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6029263



Internal ID21938606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48146381..48146446hg38UCSC Ensembl
chr17:46223743..46223808hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17621225
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6029263
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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