A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4735997



Internal ID20511940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48224030..48224093hg38UCSC Ensembl
chr17:46301392..46301455hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259197
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4735997
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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