A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15764104



Internal ID22098575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48342412..48342480hg38UCSC Ensembl
chr17:46419774..46419842hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4437677
Supporting Variants
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15764104
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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