A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185803



Internal ID21324624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80685133..80685133hg38UCSC Ensembl
chr17:78658933..78658933hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939961
Supporting Variants
SamplesHG002
Known GenesRPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185803
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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