A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943284



Internal ID22718731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76627823..76633235hg38UCSC Ensembl
chr17:74623905..74629317hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg385413
hg195413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375296
Samples
Known GenesST6GALNAC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943284
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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