A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244857



Internal ID22375975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7331023..7336551hg38UCSC Ensembl
Outerchr19:7396105..7401455hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263090, nssv14263092, nssv14263091
SamplesHG00512, NA19238, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244857
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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