A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250239



Internal ID22377478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1016742..1058044hg38UCSC Ensembl
Outerchr19:1016741..1058043hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381292
hg191292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262978, nssv14262979, nssv14262981, nssv14263968
SamplesHG00512, NA19238, NA19240, HG00513
Known GenesABCA7, CNN2, TMEM259
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250239
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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