A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3928315



Internal ID21348384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241614778..241614778hg38UCSC Ensembl
chr1:241778080..241778080hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15190649, nssv15190650
SamplesHG002
Known GenesOPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3928315
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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