A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15190649



Internal ID21329509
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3928315
Supporting Variants
SamplesHG002
Known GenesOPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15190649
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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