A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240946



Internal ID22374822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3122847..3179182hg38UCSC Ensembl
Outerchr19:3122845..3179180hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384525
hg194525
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263006, nssv14263004, nssv14263699, nssv14263005, nssv14263007
SamplesHG00512, NA19238, HG00731, NA19240, HG00733
Known GenesGNA11, GNA15, S1PR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240946
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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