A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941541



Internal ID22716967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40126632..40126887hg38UCSC Ensembl
chr17:38282885..38283140hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376365
Samples
Known GenesMSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941541
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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