A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261237



Internal ID22119544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78096791..78119031hg38UCSC Ensembl
Outerchr17:76092872..76115112hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246524
Supporting Variants
SamplesHG00512
Known GenesTMC6, TNRC6C, TNRC6C-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261237
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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