A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261289



Internal ID22202015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83085475..83136924hg38UCSC Ensembl
Outerchr17:81043351..81084693hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381775
hg191775
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232369
Supporting Variants
SamplesHG00732
Known GenesMETRNL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261289
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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