A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236725



Internal ID22373676
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263698, nssv14263697, nssv14263694, nssv14263695, nssv14263696
SamplesHG00512, HG00731, HG00732, HG00733, HG00513
Known GenesADAMTSL5, PCSK4, PLK5, REEP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236725
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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