A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6094803



Internal ID22004036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5213008..5213008hg38UCSC Ensembl
chr17:5116303..5116303hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17630249
Samples
Known GenesLOC100130950, SCIMP
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6094803
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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