A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261270



Internal ID22145501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56867591..56885136hg38UCSC Ensembl
Outerchr17:54944952..54962497hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382485
hg192485
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233309
Supporting Variants
SamplesHG00514
Known GenesDGKE, MTVR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261270
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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