A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212157



Internal ID22359493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38755004..38780634hg38UCSC Ensembl
Outerchr19:39245644..39271274hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3825631
hg1925631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4262n152
Supporting Variantsnssv14262520, nssv14262518, nssv14262519
SamplesHG00512, NA19238, NA19239
Known GenesLGALS7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212157
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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