A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942980



Internal ID22718424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41875987..41876364hg38UCSC Ensembl
chr17:40032240..40032617hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369704
Samples
Known GenesACLY
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942980
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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