A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6094858



Internal ID22004091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:220839..220839hg38UCSC Ensembl
chr17:70630..70630hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17635492
Samples
Known GenesRPH3AL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6094858
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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