A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6096392



Internal ID22005625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51179483..51179483hg38UCSC Ensembl
chr17:49256844..49256844hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17622349
Samples
Known GenesMBTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6096392
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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