A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946697



Internal ID22722192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32522192..32523825hg38UCSC Ensembl
chr17:30849210..30850843hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381634
hg191634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384044
Samples
Known GenesMYO1D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946697
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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