A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374735



Internal ID22600404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50530463..50530515hg38UCSC Ensembl
chr17:48607824..48607876hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933048
Supporting Variants
Samples
Known GenesMYCBPAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374735
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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