A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760747



Internal ID20536607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191398078..191398078hg38UCSC Ensembl
chr2:192262804..192262804hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274257
Samples
Known GenesMYO1B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760747
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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