A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263696



Internal ID22185665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1487039..1554193hg38UCSC Ensembl
Outerchr19:1487038..1554192hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382390
hg192390
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236725
Supporting Variants
SamplesHG00731
Known GenesADAMTSL5, PCSK4, PLK5, REEP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263696
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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