A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262624



Internal ID22202417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14593740..14609571hg38UCSC Ensembl
Outerchr19:14704552..14720383hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381883
hg191883
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235130
Supporting Variants
SamplesHG00732
Known GenesCLEC17A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262624
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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